bluuebunny/crossref_metadata_2025 huggingface dataset:
Variability in nuclear DNA among nonhuman primates: Application of molecular genetic techniques to intra‐ and inter‐species genetic analyses
Authors: Rogers J. , Ruano G. , Kidd K. K.
Published: June 2005

Nuclear DNA clones and sequence information derived from human genetic analyses were used to detect and characterize intra‐ and inter‐species DNA variation at several nuclear loci in hominoids and cercopithecoids. Restriction fragment length polymorphisms were found at five loci among captive rhesus monkeys. Cross‐species polymerase chain reaction (PCR) amplification detected an insertion within the beta‐globin gene cluster in hylobatids. The combined use of cross‐species PCR and denaturing gradient gel electrophoresis detected both species differences and intra‐species polymorphism in the homeobox cluster 2 of hominoids. These results a) demonstrate that DNA clones and nucleotide sequence information from human molecular genetics can be used to facilitate studies of the molecular genetics of nonhuman primates, and b) document specific examples of intra‐ and inter‐species molecular variability at several loci. © 1992 Wiley‐Liss, Inc.
Highly repeated DNA sequences as phylogenetic markers among the galaginae
Authors: Crovella S. , Masters J. C. , Rumpler Y.
Published: June 2005

Highly repeated DNA sequences were investigated as potential phylogenetic indicators among five species of galagines. One lorisine, one cheirogaleid, and two lemurid species were also investigated as progressively more distant outgroups. The lorisids displayed strong conservatism with regard to these sequences, to the point where the galegine species proved difficult to differentiate. When restriction fragment differences were observed, the galagine species fell into two groups: one containing the greater galagos and G. alleni and the other comprising the lesser galagos. The sequences of the cheirogaleid Microcebus murinus were found to be highly species‐specific, bearing little resemblance to those of the galagines or the lemurids. Common sequences detected between M. murinus and G. senegalensis may be ancient sequences shared by all strepsirhines. © 1994 Wiley‐Liss, Inc.
Changes in plasma concentrations of immunoreactive inhibin, progesterone, and bioactive gonadotrophin during pregnancy in the marmoset monkey
Authors: Webley G. E. , Marsden P. L. , Knight P. G.
Published: June 2005

This study describes the peripheral concentrations of immunoreactive (ir) inhibin, progesterone, and bioactive gonadotrophin during pregnancy in the marmoset monkey, a New World primate. Blood samples were taken every two weeks from six animals from ovulation to parturition. Plasma ir‐inhibin concentrations were measured by inhibin α‐subunit‐directed radioimmunoassay (RIA) and a recently developed two‐site immunoradiometric assay (IRMA) which is specific for inhibin αβ dimer. Concentrations of α‐inhibin increased (P < 0.001) during early pregnancy to reach a peak on week 12 of pregnancy and showed a positive correlation with bioassayable gonadotrophin concentrations (r = 0.5, n = 64; P < 0.001). The concentrations of both α‐inhibin and gonadotrophin showed no further peaks and declined (P < 0.001) to low levels prior to birth. Concentrations of dimeric inhibin were substantially lower than those measured by RIA and did not vary significantly during pregnancy. Progesterone concentrations remained at luteal‐phase levels during the first half of pregnancy and increased (P < 0.05) during the second half to reach maximum concentrations just prior to birth. The relationship between α‐inhibin, gonadotrophin, and progesterone suggests that the increase in α‐inhibin may be luteal in source and under the control of gonadotrophin. The absence of a second increase in α‐inhibin later in pregnancy and the finding that lategestation placenta contained very little α‐inhibin differs from observations in Old World primates studied and suggests that the placenta may not be a source of inhibin during pregnancy in the marmoset. The finding of high levels of α‐inhibin, but not dimeric inhibin, suggests that inhibin‐related molecules may have a role other than suppression of pituitary folliclestimulating hormone. © 1994 Wiley‐Liss, Inc.
Mangabey (Cercocebus albigena) population density, group size, and ranging: A twenty‐year comparison
Authors: Olupot William , Chapman Colin A. , Brown Charles H. , Waser Peter M.
Published: June 2005

Mangabey groups studied in the Kibale Forest Reserve, Uganda, in 1971 were studied again in 1991 using similar data collection protocols. The results were used to assess the effect of group size on activity budgets and travel costs, and to document the effects of habitat changes on mangabey density and demography. Larger mangabey groups traveled longer distances per day than smaller groups. Time budgets were less clearly influenced by group size. Mangabey population density increased over the 20 year period. This increase in population density paralleled habitat changes, particularly an increase in tree density, and was accompanied by increased use of regenerating forest. © 1994 Wiley‐Liss, Inc.
Challenge of neotropical frugivory: Travel patterns of spider monkeys and bearded sakis
Authors: Norconk Marilyn A. , Kinzey Warren G.
Published: June 2005

We compared travel patterns of two neotropical frugivores, Ateles paniscus (black spider monkeys) and Chiropotes satanas (bearded sakis), during a 6‐month study at Raleighvallen‐Voltzberg Nature Reserve in Surinam. Ateles were typically found in small foraging parties that changed in size and composition throughout the day. Chiropotes troops moved from one feeding area to the next, fragmenting “locally” when they entered an area with more than one feeding tree. Chiropotes moved through fewer half‐hectare quadrats before encountering a feeding tree, and were more likely to locate multiple trees per quadrat than were Ateles. Several investigators have suggested that fission‐fusion travel patterns (sensu Ateles and Pan) have the potential to reduce feeding competition among troop members. We suggest that even slight modifications in the size and composition of foraging parties, such as “local” temporary troop fragmentation, have the same effect, and may be common among frugivorous primates. © 1994 Wiley‐Liss, Inc.
Population structure, demography, and dynamics of mountain baboons: An interim report
Authors: Henzi S. P. , Lycett J. E.
Published: June 2005

Counts of 61 baboon troops (Papio cynocephalus ursinus) at four localities in the Drakensberg mountains confirmed earlier reports of a small mean troop size. This troop size of 22.49 animals changed neither with latitude nor elevation. Data from two of the sites suggested that population density increases from south to north, while a working assumption of 2.5 animals/ km2 allowed us to set the population size at 7,540 animals, living in 335 troops. Both the adult sex ratio of 2.07 females/male and the immature/ adult female ratio of 1.17 were unaffected by troop size. Repeated counts from nine known troops revealed that the population is at equilibrium. © 1995 Wiley‐Liss, Inc.
Measures of body size and growth in rhesus and squirrel monkeys subjected to long‐term dietary restriction
Authors: Weindruch Richard , Marriott Bernadette M. , Conway Joan , Knapka Joseph J. , Lane Mark A. , Cutler Richard G. , Roth George S. , Ingram Donald K.
Published: June 2005

Although many studies have reported the robust effects of dietary restriction (DR) in retarding numerous aging processes in rodents, little is known about the outcomes of reducing caloric intake of a nutritious diet on aging in primates. Most primate studies have concerned the effects of malnutrition. We hypothesized that DR influences aging processes in primate species as it does in rodents. In the present study, 24 male rhesus (Macaca mulatta) monkeys (ages 0.6–5 years) and 25 male squirrel (Saimiri sp.) monkeys (ages 0.3–10 years) were provided diets formulated differently for each species but both fortified with vitamins and minerals (40% above recommended levels) as controls (approximating ad libitum levels) or experimentals (about 30% below the level of diet provided controls of comparable age and body weight). The results reported here concern the hypothesis that DR imposed during various developmental stages in these two primate species would affect morphometric parameters obtained at different occasions during the first 5 years of the study. Groups of older monkeys (rhesus: 18–25 years, n = 3; squirrel: 10–15 years, n = 4) were also included as controls for comparative purposes. Among groups of rhesus monkeys begun on DR prior to 6 years of age, growth in body weight and crown‐rump length was reduced about 10–20% beginning after 1 year on the diet, with estimated food intake being reduced about 30–35% over this period. Measures of skin‐fold thickness and various body circumference measures were also reduced in experimental groups of rhesus monkeys. In contrast, the DR regimen involving a different diet produced little impact on comparable measures in squirrel monkeys, with the estimated food intake being reduced only about 20–25% over this period. However evidence of divergence in some morphometric parameters in squirrel monkeys was beginning to emerge in young groups (<5 years(after 3 yers on the diet. © 1995 Wiley‐Liss, Inc.
Development of activity patterns, social interactions, and exploratory behavior in infant tufted capuchins (Cebus apella)
Authors: Byrne Gayle , Suomi Stephen J.
Published: June 2005

Early organization of activity states was studied in 17 tufted capuchin (Cebus apella) infants from birth to 11 weeks of age. Development of exploration and interactions with mothers and other group members were studied in 14 of these infants up to the age of 1 year. Activity profiles changed from 3 to 8 weeks as infants began to move off mothers and explore their environments. From 2 to 6 months time with mothers decreased; time alone increased correspondingly. Time spent with other group members did not vary significantly over the first year. By 7–9 months capuchin infants spent more time alone or with other group members than with mothers, although weaning was still not completed by the end of the first year. Simple environmental exploration began in the 2nd month and reached stable levels by 4 months. Complex manipulation of food and objects first began at 3–4 months and increased to stable levels in the second half of the first year. Some preliminary differences were evident between infants living in indoor cages and those living in indoor/ outdoor runs. Infants in cages spent less time in dorsal contact with mothers, and less time in social play and proximity to other animals than those in runs. Instead, infants in cages spent more time alone and engaged in more manipulation of food. Some measures of social and exploratory behavior showed a high degree of variability which may be useful in exploring individual differences in infant temperament or reactivity. © 1995 Wiley‐Liss, Inc.
Model life table for captive chimpanzees
Authors: Dyke Bennett , Gage Timothy B. , Alford Patricia L. , Swenson Brent , Williams‐Blangero Sarah
Published: June 2005

Mortality statistics from three captive populations of chimpanzees (Pan troglodytes) were combined to generate standard model life tables for each sex in this species. The model is compared to an estimate of survivorship of a group of wild animals, and is applied to an incomplete data set to illustrate how the model may be used to extend estimates of mortality statistics to missing older ages. © 1995 Wiley‐Liss, Inc.
Developmental changes in mother‐offspring grooming in Japanese macaques
Authors: Muroyama Yasuyuki
Published: June 2005

A cross‐sectional analysis was made of developmental changes in mother‐offspring grooming in Japanese macaques, Macaca,. fuscata. When offspring were immature, time spent grooming by their mothers decreased with offspring age. Soliciting by offspring increased steadily with age, in contrast to their successful soliciting, which decreased gradually until early adolescence. This is in accord with the hypothesis that grooming is one form of post‐weaning maternal investment, which may entail behavioral conflict between mothers and immature offspring. On the other hand, mothers spent much more time for grooming of their adult female offspring than for their adolescent male and female offspring. It is argued that grooming by mothers may shift from a form of maternal investment in their offspring to a benefit to be exchanged reciprocally with them. © 1995 Wiley‐Liss, Inc.
Influence of a skilled model on the behavior of conspecific observers in tufted capuchin monkeys (Cebus apella)
Authors: Adams‐Curtis Leah , Fragaszy Dorothy M.
Published: June 2005

We analyze how the presence of a skilled juvenile capuchin monkey interacting with a mechanical puzzle requiring sequential actions affected the behavior of group‐mates towards the puzzle. Using this study as an example, we suggest a methodological approach to the evaluation of social enhancement of activity and imitation. We suggest that this design could be useful in determining if social and demographic factors influence the occurrence of these phenomena. © 1995 Wiley‐Liss, Inc.
Vocal production in nonhuman primates: Acoustics, physiology, and functional constraints on “honest” advertisement
Authors: Fitch W. Tecumseh , Hauser Marc D.
Published: June 2005

The physiological mechanisms and acoustic principles underlying sound production in primates are important for analyzing and synthesizing primate vocalizations, for determining the range of calls that are physically producible, and for understanding primate communication in the broader comparative context of what is known about communication in other vertebrates. In this paper we discuss what is known about vocal production in nonhuman primates, relying heavily on models from speech and musical acoustics. We first describe the role of the lungs and larynx in generating the sound source, and then discuss the effects of the supralaryngeal vocal tract in modifying this source. We conclude that more research is needed to resolve several important questions about the acoustics of primate calls, including the nature of the vocal tract's contribution to call production. Nonetheless, enough is known to explore the implications of call acoustics for the evolution of primate communication. In particular, we discuss how anatomy and physiology may provide constraints resulting in “honest” acoustic indicators of body size. © 1995 Wiley‐Liss, Inc.
Sex differences in infant integration in a semifree‐ranging group of Barbary macaques (Macaca sylvanus, L. 1758) at Salem, Germany
Authors: Timme Angelika
Published: June 2005

Sixteen multiparous Barbary macaque females with newborns were studied over a 16 month period within the context of their naturally formed group. Analysis of their social behavior revealed 1) triadic interactions involving focal females, their newborns, and other group members occurred mainly with other females; and 2) mothers with female newborns interacted mainly with females of their own matriline, while mothers with male newborns interacted mainly with nonmatriline females. Observed in two successive birth seasons, this pattern indicates that partners of maternal interactions chose each other according to the sex of the newborn.

Measures of distance from the mother also reflected differences between infants of different sex. At about five months of age, female infants were observed close to their mothers significantly more often than males. This finding follows the pattern of a sex‐specific infant socialization process which integrates female infants into the network of their matrilines and male infants into the broader group. This sex‐specific integration pattern is interpreted as supporting female philopatry and male dispersal. © 1995 Wiley‐Liss, Inc.
Relationship of chimpanzee leaf‐swallowing to a tapeworm infection
Authors: Wrangham Richard W.
Published: June 2005

Leaf‐swallowing by chimpanzees Pan troglodytes has been hypothesized to control parasites, but it has not yet been shown to be associated with specific parasitic infections. This report takes advantage of a tapeworm infestation among wild chimpanzees to examine whether leaf‐swallowing was associated with the presence of tapeworms.

Leaf‐swallowing was monitored over 6.5 years in two chimpanzee communities in Kibale National Park (Uganda). In one community, tape‐worms ?Bertiella studeri were found only during a seven‐month period, when they occurred in every month. During this period, leaf‐swallowing occurred at an unusually high rate, and dungs that contained tapeworm fragments tended to contain whole leaves. These data suggest that tape‐worm infections increased the rate at which chimpanzees swallowed whole leaves. However, this does not mean that tapeworms were necessarily controlled as a result. © 1995 Wiley‐Liss, Inc.
Social status, behavior, and central serotonergic responsivity in female cynomolgus monkeys
Authors: Shively C. A. , Fontenot M. B. , Kaplan J. R.
Published: June 2005

The relationship between social status, behavioral characteristics, and central serotonergic function was examined in eight adult female cynomolgus monkeys (Macaca fascicularis). The subjects were housed in four‐member social groups for 6 months. Social behavior was observed three times a week. The early follicular phase of the menstrual cycle was determined based on the occurrence of menses, and the prolactin response to acute administration of fenfluramine HCl during the early follicular phase was used as a measure of net brain serotonergic responsivity. Delta prolactin responses (the prolactin response to fenfluramine minus baseline concentrations) were lower in dominant than in subordinate females. Dominant females were more aggressive and less submissive than subordinates. Likewise, females with the lowest delta prolactin concentrations were more aggressive and less submissive than females that had relatively large increases in prolactin. Delta prolactin responses also correlated negatively with percent time eating and investigating in close proximity to penmates, and correlated positively with percent time scanning anxiously while alone. The same pattern of correlation was noted between social status and the aforementioned affiliative behaviors. It was concluded that high central serotonergic responsivity may be associated with low rates of aggression, high rates of submission, and subordinate social status in female cynomolgus monkeys. © 1995 Wiley‐Liss, Inc.
Pleistocene peopling of the Americas
Authors: Meltzer David J.
Published: June 2005

Our species colonized North and South America last of all the major land masses, thereby ending the spread that began a million years earlier when ancestral members of the genus Homo first ventured out of Africa. But who were the first Americans? When did they arrive? Did they come in one migration or many? How quickly and by what adaptive strategies did they move across the environmentally diverse and trackless New World? How do they relate to contemporary native Americans? We have plenty of answers to these questions. Unfortunately, we can't agree which ones are right. This much is certain: the first Americans were Homo sapiens who came from northeast Asia via the Bering Straits (Fig. 1). They may have walked from Siberia to Alaska across Beringia, the land bridge formed when vast Pleistocene glaciers froze 5% of the world's water,1 lowering global sea levels and exposing the shallow continental shelf between Asia and America. These hunter‐gatherers were present throughout the Americas by 11,500 years ago, in time to witness the climatic and ecological changes, including the extinction of thirty‐five genera of megafauna, that signalled the end of the Pleistocene. Beyond those bare facts there is controversy. Here, then, is a brief summary of the state of the argument over the peopling of the Americas.
Neandertals: Images of ourselves
Authors: Trinkaus Erik , Shipman Pat
Published: June 2005

During the last two decades, paleoanthropology has focused increasingly on the global issue of modern human origins, and a preeminent part of that process has concerned the fate of the Neandertals of the northwestern Old World. Not so long ago, working on the origins of modern humans was a niche cloaked in convenient obscurity. Many human paleontologists were content to largely ignore, and thus remained ignorant of, the hominid fossils of the later Pleistocene, an attitude parallel to that of Bordes regarding the Neolithic in comparison to the more glamorous Paleolithic; he referred to the former simply as, “C'est de la merde!” However, the Neandertais have become a topic guaranteed to attract attention, thus drawing in scholars who until recently disdained interest in such basically human fossil hominids. They are now willing to direct their students' and even their own research toward late archaic humans (such as Neandertals) and early modern humans in whatever portion of the Old World is most readily available.
Differential mortality and the Donner Party disaster
Authors: Grayson Donald K.
Published: June 2005

The story of the Donner Party combines powerful American themes. The beginning of the tale is immersed in the romance of the western frontier and in the American dream of improving life by taking bold steps. The end of the tale, in contrast, is awash in death and cannibalism. No wonder Americans learn the story as children; no Grimm's fairy tale can match it. However, detailed analyses of the patterning of Donner Party deaths suggest that the story is even better read as a piece of biology than as a piece of history. Virtually all aspects of Donner Party mortality can now be explained by our knowledge of the factors that cause differential mortality in human societies. The differential fates of these emigrants show us natural selection in action.
Multiple dispersals and modern human origins
Authors: Lahr Marta Mirazon , Foley Robert
Published: June 2005

Despite a massive endeavour, the problem of modern human origins not only remains unresolved, but is usually reduced to “Out of Africa” versus multiregional evolution. Not all would agree, but evidence for a single recent origin is accumulating. Here, we want to go beyond this debate and explore within the “Out of Africa” framework an issue that has not been fully addressed: the mechanism by which modern human diversity has developed. We believe there is no clear rubicon of modern Homo sapiens, and that multiple dispersals occurred from a morphologically variable population in Africa. Pre‐existing African diversity is thus crucial to the way human diversity developed outside Africa. The pattern of diversity—behavioural, linguistic, morphological and genetic—can be interpreted as the result of dispersals, colonisation, differentiation and subsequent dispersals overlaid on former population ranges. The first dispersals would have originated in Africa from where two different geographical routes were possible, one through Ethiopia/Arabia towards South Asia, and one through North Africa/Middle East towards Eurasia.
Stable isotope studies in human evolution
Authors: Schoeninger Margaret J.
Published: June 2005

The discipline of human evolution usually involves the evaluation of changes in gross and molecular morphology or changes in artifact assemblages. In contrast, stable isotope analysis is an indirect line of investigation. Understanding the human evolutionary sequence requires information on nutritional, biobehavioral, and general ecology. These are the kinds of information that stable isotope analysis can provide. Such studies may not identify the mechanisms for change, but their application serves to elucidate the situations under which change occurred.
The adaptive legacy of human evolution: A search for the environment of evolutionary adaptedness
Authors: Foley Robert
Published: June 2005

The growth of evolutionary psychology has led to renewed interest in what might be the significant evolutionary heritage of people living today, and in the extent to which humans are suited to a particular adaptive environment—the EEA. The EEA, though, is a new tool in the battery of evolutionary concepts, and it is important both that it is scrutinized for its utility, and that the actual reconstructions of the environments in which humans and hominids evolved are based on sound palaeobiological inference and an appropriate use of the phylogenetic context of primate evolution.
Genetic analysis workshop II: Summary
Authors: Maccluer Jean W. , Falk Catherine T. , Spielman Richard S. , Wagener Diane K.
Published: June 2005

The Second Genetic Analysis Workshop was held October 30, 1983, at the American Society of Human Genetics meetings in Norfolk, Virginia. Ten groups of investigators analyzed three sets of pedigrees generated by computer simulation. A summary of the workshop is presented.

In this overall description by the workshop organizers, the rationale for the choice of problems and the characteristics of the three data sets are discussed, and the ten analyses are briefly summarized and compared. Following this general summary are brief descriptions of the analyses of each group of workshop participants, in alphabetical order by senior author.
Genetic analysis workshop II: Results of segregation analyses using POINTER and linkage analyses using LIPED
Authors: Cox Nancy J.
Published: June 2005

Genetic Analysis Workshop II Problems 2 and 3 were analyzed using the segregation analysis program POINTER and the linkage analysis program LIPED. Results of the segregation analyses were acceptable with respect to both parameter estimation and hypothesis testing. Results of the linkage analyses were also good. Although it was noted that the linkage and population association data were sometimes compatible with more than one hypothesis, the correct relationships among the trait and marker loci were generally among those found compatible with the data.
Genetic analysis workshop II: Pedigree analysis of a binary trait without assuming an underlying liability
Authors: Hopper J. L. , Hannah M. C. , Mathews J. D.
Published: June 2005

A model for concordance in a binary measure that does not rely on the assumption of an underlying latent liability dichotomized about a threshold has been demonstrated for twin pairs [Hannah et al, 1983]. It is extended here to pedigrees of arbitrary structure by making an assumption that is, for small incidence rates, almost equivalent to postulating that relative risks are multiplicative. The model is applied to the workshop data to determine the extent to which the known structure of the simulated models can be recovered.
Genetic analysis workshop II: Combined segregation, linkage, and association analysis
Authors: Morton N. E. , Sherman S. L. , Maclean C. J. , Yee S. , Lew R.
Published: June 2005

A combined segregation, linkage, and association analysis using the program COMBIN was performed on the simulated pedigree data prepared for the Second Genetic Analysis Workshop. The model used in COMBIN is described and the presented results illustrate its effectiveness in the analysis of such data. Linkage analysis was performed and maps for each linkage group are presented.
Genetic analysis workshop II: Segregation and linkage analysis
Authors: Namboodiri Kadambari K. , Kaplan Ellen B.
Published: June 2005

Familial segregation and linkage analyses were performed on two sets of the Genetic Analyses Workshop II data. The salient features of the mode of inheritance of the disease trait and its linkage/association with polymorphic markers and also marker‐marker linkages were delineated using statistical‐genetic techniques.
A test of nonrandom segregation
Authors: Badner Judith A. , Chakravarti Aravinda , Wagener Diane K. , Rao D. C.
Published: June 2005

Within a family, associations between a disease and a marker locus are often inferred when affected offspring share marker alleles more often than is expected by chance. Generally, this is due to nonrandom parental transmission of marker alleles and specifically could be due to linkage, epistatic gene action, or segregation distortion at the marker locus. In this paper, we discuss the statistical properties of a general test of nonrandom segregation of a marker gene. The exact probability distribution of the test under the null hypothesis of random segregation is derived, as is the distribution under the alternative hypothesis of genetic linkage. We compute the mean and variance of these distributions as a means of judging the adequacy of random segregation to explain disease‐marker data but also provide a method for computing the exact significance value under the null hypothesis. These methods have been utilized for studying HLA segregation in families with tuberculoid leprosy. On the assumption that this type of leprosy is autosomal recessive, we find evidence that a gene controlling susceptibility to infection by Mycobacterium leprae resides on human chromosome 6, approximately 13 map units away from the HLA locus in males.
Resolving genetic models for the transmission of schizophrenia
Authors: McGue M. , Gottesman I. I. , Rao D. C. , Spence M. Anne
Published: June 2005

Although family studies have consistently reported elevated rates of schizophrenia among the relatives of schizophrenics, the exact nature of the transmission of the disorder remains uncertain. Genetic models hypothesized to explain the transmission of schizophrenia include the generalized single locus and multifactorial threshold models. Here we briefly describe these models and test their goodness‐of‐fit to a single data set on the pooled morbid risks of schizophrenia among the relatives of schizophrenic probands in nine different classes of relatives with five different degrees of genetic relatedness. The generalized single locus model is rejected, while a pure polygenic threshold model does fit the observed risks. Allowance for environmental sources of familial resemblance under the multifactorial threshold model significantly improved the fit of the model to the data. An application of the multifactorial model to family data on tuberculosis is also reported. For tuberculosis, a strong familial environmental but not genetic effect was found, consistent with the known infectious etiology of this condition, showing that the finding of a strong genetic effect upon schizophrenia is not a necessary bias of these methods of analysis. The implications of these results for the search for major gene effects in schizophrenia are discussed.
Efficiency of lod scores for representing multiple locus linkage data
Authors: Maclean C. J. , Morton N. E. , Lew R. , Rao D. C.
Published: June 2005

The problem of compact, fully efficient representation of multilocus data has not yet been solved. Lod scores can be used to map multilocus data, but because of certain statistical problems, this method loses some information. However, simulation studies show that for distances less than 10 or 20 cMo, where there is little danger of huge overestimates of distance, the lod score method yields estimators just as good as maximum likelihood (ML). Since short distances are the most important, the lod method is quite efficient. Its main drawback is misrepresentation of the likelihood under wrong gene orders. This problem can be ameliorated with a single multipoint calculation under each order. Thus, representation of multipoint data with lod scores can be very practical.
Genetic analysis workshop III: Summary
Authors: Maccluer Jean W. , Falk Catherine T. , Wagener Diane K.
Published: June 2005

Genetic Analysis Workshop III (GAW III) was held October 31, 1984 at the American Society of Human Genetics meetings in Toronto, Ontario. Prior to the workshop, a set of 150 computer‐simulated pedigrees was distributed. Individuals in the artificial pedigrees were characterized by genotypes at eight marker loci. Twelve groups of investigators analyzed linkage in this data set and submitted results for presentation at the workshop.

This summary of GAW III by the members of the workshop organizing committee includes a brief history of the workshops and the rationale for the choice of problems, a description of the method by which the computer‐simulated pedigrees were generated, a brief summary of the analyses of the 12 groups of participants, and a discussion of the general conclusions derived from the workshop and from a preworkshop meeting of participants. Descriptions of the analyses by each of the 12 groups, in alphabetical order by senior author, follow this overall summary.
Genetic analysis workshop III: Multipoint linkage analysis using FAP
Authors: Baur Max P. , Neugebauer Meinhard , Sigmund Martin
Published: June 2005

The family analysis package (FAP), originally designed for the analysis of the multilocus pedigree data of the 9th HLA workshop, was applied to the problem of multipoint mapping and estimation from the simulated data of GAW III. The four‐point analyses performed within the two identified linkage groups yielded correct results.
Genetic analysis workshop III: Multilocus linkage analysis using PAP
Authors: Bishop D. T. , Cannon L. A. , Hasstedt S. J. , Skolnick M. H.
Published: June 2005

Two linkage groups were identified through pairwise linkage analysis using PAP. Three‐locus analysis confirmed the suggested order of the loci within the linkage groups and was used to assess the strength of the conclusions. Strategies for improving the efficiency of linkage analysis are discussed.
Genetic analysis workshop III: Use of multidimensional scaling in chromosome mapping
Authors: Donald J. , Sturt E. , Der G. , McCusker K.
Published: June 2005

Two‐point methods were used throughout. Male and female lod scores were calculated using LIPED. Edwards' programs, ZLODS and OBM, were used for joint analysis of the lod scores. ZLODS estimates recombination fractions. OBM calculates the likelihood and estimates the map distances for a given ordering of loci. Since OBM will only analyze a specified ordering, multidimensional scaling was used as a general method for establishing linkage groups and likely orderings within them.
Genetic analysis workshop III: Construction of genetic maps using two‐point lod tables
Authors: Sherman S. L. , Morton N. E.
Published: June 2005

A method to construct genetic maps using two‐point lod tables was applied to the simulated pedigree data. The analysis provided the correct map order and distance between markers with remarkable accuracy. The methodology discussed.
Segregation analysis of dopamine‐beta‐hydroxylase (DBH) and catechol‐o‐methyltransferase (COMT): Identification of major locus and polygenic components
Authors: Goldin Lynn R. , Rao D. C.
Published: June 2005

Enzymes of catecholamine metabolism, plasma dopamine‐beta‐hydroxylase (DBH), and erythrocyte catechol‐O‐methyltransferase (COMT) were each previously shown to be transmitted as single codominant loci in a sample of approximately 30 multigenerational families that were analyzed with the single major locus model. Here, both major locus and polygenic hypotheses are tested by applying the mixed model of analysis to the identical samples, after breaking the families into two‐generation units. For plasma DBH, the most parsimonious model is a dominant major locus (ie, high values dominant to low values) accounting for 41% of the variance and a polygenic component accounting for 25% of the variance. For erythrocyte COMT, the most parsimonious model is a dominant major locus accounting for 56% of the variance and a polygenic component accounting for 27% of the variance. The major locus for COMT has been supported by previous biochemical studies. The major locus for DBH is supported by the finding from our previous study of possible linkage to the ABO locus. Further biochemical and molecular genetic investigations are needed to better define the genetic loci determining the activity of these enzymes.
Construction of conditional lod tables from multiple‐locus linkage data
Authors: Maclean Charles J. , Lew Ruth , Yee Shirley , Rao D. C.
Published: June 2005

Although multipoint linkage data are becoming quite common, economical and efficient methods for presenting these data are not yet in use. Tables giving the full likelihood function would be very voluminous, whereas reduction to standard lods destroys part of the information. We suggest a special lod table representation which preserves nearly all the information about both gene order and genetic map distance at a great reduction in data presented. Conditional lods, coined “c‐lods” to distinguish them clearly from ordinary lods, are calculated for distances between each adjacent pair of loci, with all distances among other loci in the system conditionally optimized. Thus, in an n‐locus system, conditional lods are presented for the n − 1 adjacent pairs of loci only.

The principal reason for reporting lod scores is the potential for combining data from separate studies to reach conclusive evidence for linkage and gene order. Because estimates of recombination are different in each set of data, the crux of the problem is to present scores that provide a close approximation to the true likelihood away from maximum likelihood (ML). The sum of conditional lods closely approximates the likelihood throughout the domain. Therefore, conditional lods contribute appropriately when mapping from several sources of data, so contradictory estimates can be reconciled efficiently.
Familial resemblance of bone mass in adult women
Authors: Sowers Maryfran R. , Burns Trudy L. , Wallace Robert B. , Rao D. C.
Published: June 2005

Bone mass may be so reduced in some individuals as to be characterized as osteoporotic, with resulting fracture, particularly of the proximal femur, vertebrae, or wrist. We identified 34 mother‐daughter sets (n = 70) and 29 sibling sets (n = 59) from a community study of bone mass correlates to assess the degree of resemblance in bone mass within and between generations. We hypothesized that if between‐ and within‐generation correlations of bone mass in first‐degree relatives were of sufficient magnitude, then an important genetic influence in osteoporosis might be considered. Bone mass was measured at the distal radius using a single‐beam photon absorptiometer. Height, weight, triceps skinfold thickness, and mid‐arm circumference were also measured, and the latter two measurements used to compute humeral muscle area. We identified a significant resemblance in height among the sibling sets. We found no consistent evidence for significant resemblance of bone mass among women when considering mother‐daughter sets or sibling sets.
Studies on an isolated West Indies population: IV. Genetic study of hearing loss
Authors: Bonaïti Catherine , Demenais Florence , Bois Etienne , Hochez Joelle , Rao D. C.
Published: June 2005

Hearing troubles were found to be very frequent among inhabitants of French origin in a small Caribbean island. Segregation analysis of hearing loss was performed in 165 complete nuclear families and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40). Homozygous individuals for this gene would probably be more susceptible to ototoxic agents than other individuals. High frequency of this gene may be due to a founder effect.
Familial aggregation of cancer in Laredo, Texas: A generally low‐risk Mexican‐American population
Authors: Weiss Kenneth M. , Chakraborty Ranajit , Smouse Peter E. , Buchanan Anne V. , Strong Louise C. , Rao D. C.
Published: June 2005

Genealogies for the Mexican‐American city of Laredo, Texas, have been assembled by computer from individual civil and church records of birth, marriage, and death. Documentation is available on vital events in the lives of over 300,000 individuals, about 80% of the city population from 1870–1981. These data were collected to determine the degree to which death from cancer is more clustered in families than would be expected by chance alone; methods specific to this data base have been developed to accomplish this task. A statistically significant excess of familial cancer was observed overall when all cancer sites were pooled, but no evidence was observed for excess familial risk at single sites except for breast cancer and perhaps for ovarian cancer. The excess of breast cancer risk is comparable to that observed in other populations. A few site‐combinations manifest excess familial risk, most notably those involving and dominated by breast cancer and certain digestive system sites. We do not confirm the degree of familiality observed elsewhere for cancers of the lung, colorectum, stomach, or other sites in this generally low‐risk population. Even where we find evidence of excess risk, the degree of excess is small and the number of multiply affected families too small to test etiologic models by segregation analysis. The absence of excess familial risk does not appear to be due to inadequate numbers of cases, since breast cancer is familial with no more occurrences in Laredo than other sites. These results differ to some extent from those found in a similar study of Utah Mormons, but it is unclear whether this is because of differences in risk patterns or statistical properties of the analytic methods used in the two studies.
Human parotid proline‐rich proteins: Correlation of genetic polymorphisms to dental caries
Authors: Yu Pao‐Lo , Bixler David , Goodman Patricia A. , Azen Edwin A. , Karn Robert C. , Rao D. C.
Published: June 2005

Parotid saliva contains a variety of proline‐rich proteins. This study found that, among 306 children between the ages of 5 to 15 years, there is a significant increase in the decayed‐missing‐filled tooth surface (DMFS) score of the permanent teeth with age in children with the specific proline‐rich protein phenotypes Pa and Pr. However, the increase in DMFS score of the permanent teeth of children was significantly greater in children with Pa+ and Pr22 than in those with the other phenotypes (Pa– or Pr11 and Pr12). The previously established close correlation between the Pa and Pr phenotypes and the genetic variants of salivary peroxidase (a powerful antibacterial system in the oral cavity) may provide an explanation for the relationship of certain proline‐rich protein phenotypes to dental caries.
Symptom patterns and causes of somatization in men: II. Genetic and environmental independence from somatization in women
Authors: Cloninger C. Robert , von Knorring Anne‐Liis , Sigvardsson Soren , Bohman Michael , Conneally P. M.
Published: June 2005

The genetic and environmental antecedents of clinically distinct disorders leading to somatization were compared in 807 Swedish men and 859 Swedish women adopted at an early age by non‐relatives. Asthenic somatization, the predominant form in men, was a neurotic disorder associated with a lower incidence of criminality in the somatizers' biological parents than in the biological parents of non‐somatizers of either sex. In contrast, most female somatizers and a minority of men with diversiform somatization had disorders that were associated with a higher incidence of criminality in their biological parents than in other biological parents. Likewise, female somatizers, but not male somatizers, had an excess of alcoholic biological fathers when compared to other adoptees. In addition, different postnatal environmental background factors contributed to the risk for somatization in each sex. These findings support the distinctions among the different types of somatizers and show that the usual causes of somatization are fundamentally different in men and women. This illustrates the utility of the adoption paradigm in resolving genetic and environmental contributions to the familial aggregation of developmentally complex phenotypes.
Log‐linear model analysis of allelic associations
Authors: Aston C. E. , Wilson S. R. , Rao D. C.
Published: June 2005

An approach is outlined for the analysis of nonrandom allelic associations in multilocus systems in a diploid population. The concept of composite link functions in generalised linear model analysis is used to handle the problem of incomplete identification of constituent gametes often encountered in genotypic data for two or more marker loci.
Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group‐specific loci: Use of restriction fragment length polymorphisms extends exclusion region
Authors: Kidd K. K. , Kidd J. R. , Castiglione C. M. , Pakstis A. J. , Sparkes R. S. , Rao D. C.
Published: June 2005

In an earlier paper, positive but nonsignificant lod scores were found in pair‐wise linkage tests between multiple endocrine neoplasia type 2A (MEN‐2A) and both the haptoglobin (HP) locus on chromosome 16 and group‐specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorphisms for HP and for metallothionein 2 processed pseudogene 1 (MT2P1) near GC have made it possible to carry out a more powerful set of linkage tests with MEN‐2A. This paper reports the results of such linkage analyses employing both pair‐wise and multipoint tests. Close linkage of HP on chromosome 16 and MEN‐2A is excluded. Linkage of MEN‐2A on chromosome 4 with GC is excluded on the MT2P1 side of GC in a 7‐centimorgan interval around MT2P1.
Evidence for linkage between Wilson disease and esterase D in three kindreds: Detection of linkage for an autosomal recessive disorder by the family study method
Authors: Bonné‐Tamir Batsheva , Farrer Lindsay A. , Frydman Moshe , Kanaaneh H. , Rao D. C.
Published: June 2005

Wilson disease (WD) is an inherited disorder of copper metabolism that affects the brain, liver, and other organs. Our group recently reported close linkage between the locus for WD and a polymorphic red cell enzyme, esterase D (EsD), in a large inbred Israeli‐Arab lineage. We have subsequently studied two unrelated Druze kindreds in order to confirm this linkage and more precisely define the distance between the two loci. The maximum likelihood estimate of recombination was determined to be zero with lod scores of 1.48 and 1.06 in each Druze family, respectively. The combined maximum lod score based on pooled results from the Israeli‐Arab and Druze kindreds is 5.49 at θ = 0.03.

WD is one of a few autosomal recessive disorders that has been mapped by classical family study methods. In this paper, the merits for using large, inbred families in linkage studies of rare recessive disorders are discussed. Major considerations for pedigree selection are size and number of constituent nuclear families, number and distribution of affected individuals, and pedigree structure that may provide information for determination of phase between the disease and marker loci.
Genetic etiology of gastric carcinoma: I. Chronic atrophic gastritis
Authors: Bonney George E. , Elston Robert C. , Correa Pelayo , Haenszel William , Zavala Diego E. , Zarama Guillermo , Collazos Tito , Cuello Carlos , Rao D. C.
Published: June 2005

Scientific evidence has accumulated to show that chronic atrophic gastritis (CAG) is a precursor of gastric carcinoma, especially its intestinal histologic type; thus the etiology of CAG is of interest. Data on 110 families (557 individuals) collected as part of a large cohort from the Narino region of Colombia, South America, are analyzed to determine the familiality of CAG as a risk factor, and the possible involvement of a major gene in its etiology. We found that age and having an affected mother are important risk factors. In the sample, 45% are affected; 56% of individuals above 30 are affected, whereas only 28% of those 30 and under are affected; 48% of those with affected mothers are affected, but only 7% of those with unaffected mothers are affected. A positive spouse association was confounded with age. Sex and an affected father are not significant risk factors. The genetic (segregation) analysis showed Mendelian transmission of a recessive autosomal gene with penetrance dependent on age and mother's CAG status. Homozygous recessives account for an estimated 61% of the sampled population and have penetrance reaching 72% at age 30 if the mother is affected, and 41% if the mother is not affected. Carriers and non‐carriers, who make up an estimated 39% of the sampled population, have an appreciable estimated risk after age 50. The environment, particularly diet, as the sole determinant of CAG needs re‐evaluation; some combined action of genes and environment seems more plausible.