bluuebunny/crossref_metadata_2025 huggingface dataset:
Sex differences in adolescent rhesus monkey (Macaca mulatta) Behavior
Authors: Bernstein Irwin S. , Judge Peter G. , Ruehlmann Thomas E.
Published: June 2005

Sex differences in the behavior of 2.5‐ to 4.5‐year‐old rhesus monkeys, living in two social groups approximating natural compositions, were studied over a period of 3 years. Both sexes interacted significantly more often with members of their own sex in agonistic and affiliative interactions even when total rates and durations for male and female subjects did not differ. Strong sexual segregation was also seen in proximity, nonspecific contact, and huddling partners. Males were more involved in play and sex than were females and engaged in these activities primarily with other males. Females did more grooming than males, but groomed both male and female partners. Females also appeared to interact with a wider age range of partners than did males. Although total participation in aggressive interactions did not differ between the two sexes, females used more active forms of agonistic expression than did males. These differences in the behavior of adolescent rhesus are hypothesized to lead to social bonding among adolescent males, while females remain bonded to their matri‐lines, including younger males and some fully adult males associated with matrilineal relatives. Adolescent males emigrate from their natal groups but retain sociality and bond to males and females in new groups as they become adult. © 1993 Wiley‐Liss, Inc.
Food sharing in lion tamarins: Tests of three hypotheses
Authors: Price Eluned C. , Feistner Anna T. C.
Published: June 2005

Infant marmosets and tamarins (Callitrichidae) frequently receive food from older group members. Three possible functions of food sharing in lion tamarins were examined experimentally. The first hypothesis, that food sharing ensures that infants receive sufficient food even if it is difficult for them to acquire it themselves, was tested by varying the ease with which infants could reach a food source. When access to food was restricted, infants fed themselves less, received more food from others, and had a higher success rate in begging attempts. The second hypothesis, that food sharing helps teach infants an appropriate diet, was tested by presenting fruits that were novel to infants. Although infants fed themselves less under these conditions, adults were less likely to share novel foods than familiar foods. The final experiment compared food sharing when food was abundant with behavior when food items were presented singly. Infants fed themselves less and received more food from others when food items were rare. These results suggest that food sharing in lion tamarins helps to ensure that infants receive adequate amounts of food which is difficult to locate or acquire, but that it is not involved in teaching infants which foods they should eat. © 1993 Wiley‐Liss, Inc.
How to obtain individual urine samples from undisturbed marmoset families
Authors: Anzenberger G. , Gossweiler H.
Published: June 2005

An apparatus and a method are described, which allow simultaneous urine collection from all individual members of undisturbed marmoset families. The monkeys have been trained, after leaving their sleeping box, to enter single adjacent compartments where they are rewarded. There the monkeys micturate within minutes and the clean urine runs directly into cryotubes. These simultaneously collected urine samples open up the opportunity for investigation of the relationship between endocrine function and behavioral dynamics within entire marmoset groups. © 1993 Wiley‐Liss, Inc.
Complex leaf‐gathering skills of mountain gorillas (Gorilla g. beringei): Variability and standardization
Authors: Byrne Richard W. , Byrne Jennifer M. E.
Published: June 2005

The skills that mountain gorillas use to deal with the stings, tiny hooks, and spines protecting common plant leaves in their diet were examined for variation within and between animals. Many elements of uni‐ and bimanual performance were identified, often involving delicate precision and coordination, and varying idiosyncratically, erch individual having a different set of preferred elements. Many of these elements are functionally equivalent, and all but one weaned animals showed full processing capability; the history of the one exception suggests that early experience with the task may be important. Gorillas' idiosyncrasy in manual skill elements is entirely consistent with trial‐and‐error learning at this level. By contrast, each individual uses very few techniques (structured sequences of elements) for most processing, and these techniques are the same across the population. Where animals deviate from this generalization, they largely employ the simpler technique normally used for undefended leaves. Lateralization increases from start to finish, consistent with a logical structure in which each stage has a laterality bias and each stage is sequentially dependent on the last. Variations from their commonest, techniques occur in all animals (on average, about nine variant techniques were recorded from each animal). The repertoire of techniques increases significantly with age, whereas the repertoire of elements does not. This points to an initial reliance on a single logical structuring that is well established by weaning (about 3.5 years), with subsequent development of the ability to vary the technique used so as to take advantage of variations in the environment. Standardization of logical organization, despite variability between different animals in individual elements and behavioral laterality, suggests that the logical ordering of elements and the interrelationships of processing stages is copied by program‐level imitation. © 1993 Wiley‐Liss, Inc.
Range use of the forest chimpanzees of Kibale: Implications for the understanding of chimpanzee social organization
Authors: Chapman Colin A. , Wrangham Richard W.
Published: June 2005

We contrast the range use patterns of male and female chimpanzees (Pan troglodytes) based on repeated sightings over three years of 19 individuals in the Kanyawara community of Kibale Forest Reserve, Uganda. Depending on how home range size was calculated, male chimpanzees used an area that was 1.5 to 2 times greater than that of females. There was no difference between the sexes in whether their home ranges were used in a clumped or uniform fashion. However, males were more likely to be seen in boundary areas than females. These results are discussed in light of previously proposed models of chimpanzee social organization. It is concluded that the scenario in which females have smaller core areas within the defended home range of the males is most strongly supported by the range use patterns observed in Kibale chimpanzees. © 1993 Wiley‐Liss, Inc.
Localization of estrogen receptors in rhesus monkey ovary
Authors: Hutz R. J. , Wagner N. , Krause P. , Fisher C. , Syed N. , Dierschke D. J. , Monniaux D. , Tomanek M.
Published: June 2005

We have previously demonstrated that the exogenous administration of estradiol‐17β (E2) to rhesus monkeys induces atresia of the dominant preovulatory follicle (DF); and that this effect is mediated centrally, via the inhibition of follicle‐stimulating hormone, and is also exerted directly at the level of the ovarian granulosa cell. We wished to investigate whether the local effect of E2 is transduced through interaction with the nuclear receptor for estrogen, particularly in light of certain evidence that suggests a general lack of estrogen receptor (E‐R) in the rhesus monkey ovary, except in the germinal epithelium. In the present study, we evaluated the presence of E‐R by both autoradiographic and immunocytochemical techniques. Frozen sections of ovaries from rhesus females were incubated in experiment 1 with either 3H‐E2 or 125I‐E2, in the presence or absence of excess, non‐radioactive ligand or analogues diethylstilbestrol (DES) or the receptor antagonist 4‐OH‐tamoxifen (TAM). 3H‐E2 binding was most intense over functional corpora lutea, and was reduced to background with excess DES; label was also evident over antral follicles, Image analysis showed specific binding of 125I‐E2 by ovaries. In experiment 2, cryostat sections were processed for immunocytochemical staining using the per‐oxidase‐anti‐peroxidase (PAP) method and the H222 monoclonal antibody to the E‐R. Intense, specific label was observed over nuclei of germinal epithelium, but, additionally, for the first time, to granulosa cells of antral follicles and other compartments of the ovary. In this paper, we report the first evidence for estrogen binding to rhesus monkey ovary; tins binding is specific, apparently receptor mediated, and corroborated independently by autoradiographic and immunocytochemical means. We herein provide substantial support for estrogen's dramatic effects being exerted directly at the level of the monkey ovary. © 1993 Wiley‐Liss, Inc.
Haraway's monsters. Review of simians, cyborgs, and women, the reinvention of nature, by Donna J. Haraway. New York, Routledge, 1991, x + 287 pp., $55.000, cloth, $16.95, paperback
Authors: Brent Linda
Published: June 2005

Inhabiting these pages are odd boundary creatures—simians, cyborgs, and women—all of which have had a destabilizing place in the great Western evolutionary, technological, and biological narratives. These boundary creatures are, literally, monsters.
Psychosocial and hormonal aspects of hierarchy formation in groups of male squirrel monkeys
Authors: Lyons David M. , Mendoza Sally P. , Mason William A.
Published: June 2005

Accounts of primate social dominance hierarchies often imply that the achievement of superior status is a “goal”, akin to a valued resource or commodity, and that hierarchies emerge in multimale groups from prolonged competitive conflicts over social status. This possibility is not consistent with our observations of five newly formed triads of adult male squirrel monkeys (Saimiri sciureus). Stable linear hierarchies based on clear asymmetries in the direction of intermale agonism and genital displays were established quickly, with virtually no reciprocal fighting, and in the absence of rank‐related differences in plasma cortisol or testosterone. Although affiliative social overtures were initiated more often by high‐ranking and middle‐ranking males, affiliative overtures were directed equally often toward all members of each group. From the outset of the study all males, regardless of rank, spent an average of 33% of their time huddling in affiliative contact with male cagemates. These results suggest that in newly formed groups of adult male squirrel monkeys, social hierarchies reflect an expedient convention that reduces conflict and facilitates the formation of small cohesive groups. © 1994 Wiley‐Liss, Inc.
A twenty‐one‐year study of maternal dominance and secondary sex ratio in a colony group of stumptailed macaques (Macaca arctoides)
Authors: Rhine Ramon J.
Published: June 2005

Trivers and Willard's theory of sex‐ratio adjustment, as applied to cercopithecines, predicts that the ratio of male to female offspring will be greater for dominant than for subordinate mothers. A local‐resourcexyhcompetition hypothesis predicts the reverse. To date, results from several species of macaque are inconsistent and often not statistically significant. In this 21 year study, a colony group of stumptailed macaques is added to the species previously studied. Seventy‐five offspring were born to eight mothers for whom long‐term dominance was established. Chi‐square analyses of data from these 75 offspring failed to yield a significant relationship between sex‐ratio and mother's dominance; consequently, consistent with a growing body of cercopithecine literature, neither of the competing theories was supported. © 1994 Wiley‐Liss, Inc.
Variation among juvenile capuchins in social influences on exploration
Authors: Fragaszy Dorothy Munkenbeck , Vitale Augusto F. , Ritchie Bill
Published: June 2005

The exploratory or feeding activities of others might influence the timing, the place, or both, of exploratory activities among young group‐living individuals, and this influence might affect the information gained by individuals during exploration. This study examined the temporal and spatial aspects of adults' influence on the exploratory behavior of juvenile capuchins, and on the juveniles' acquisition of a novel behavior. Two experimental apparatus, which were initially novel to the juvenile subjects but familiar to the adults, and which provided food when a tool was used properly, were presented to group‐housed capuchin monkeys. The apparatus were presented (a) in a central area, in which all animals could interact with the apparatus and in which several older group members regularly solved the tasks (group site), and (b) in a protected site within the home cage (crèche) that only juveniles could enter, but from which the rest of the cage, including the group site, could be viewed. Juveniles contacted the apparatus at the crèche more often when there was no apparatus at the group site, but only half the individuals made greater use of the apparatus at the group site than at the crèche when an apparatus was present at both sites. Seven of nine used an apparatus more often when adults also had an apparatus, than when adults did not have an apparatus. These results indicate that juveniles' exploratory activity is only weakly related to adults' activity. The linkage appears closer for younger juveniles (20 months or less) than for older juveniles. Moreover, as only older juveniles learned to solve the tasks, coordination of exploration with adults was evidently not related to learning a new skill. © Wiley‐Liss, Inc.
The value of radio tracking in the study of neotropical rain forest monkeys
Authors: Campbell Aimee F. , Sussman Robert W.
Published: June 2005

Although radio tracking has been used increasingly in primate field studies over the past 15 years, some primatologists have been reluctant to use it. We present data that demonstrate benefits of radio tracking in the study of rain forest primates. Data were collected during an ecological study of Ateles geoffroyi and Cebus capucinus in hilly, dense rain forest habitat with poor visibility, in northeastern Costa Rica. We SHOW that radio tracking decreased search time for both species, which led to increased contact time and facilitated continuous data collection.

Mean search time for both primate species was significantly reduced using radio tracking (Kruskal‐Wallis Test, P < 0.05). Search times for both species increased at the end of the study, when the transmitters ceased functioning. These increased search times occurred despite high levels of familiarity with the ranging patterns of the animals. The rate of marking feeding trees increased significantly with radio tracking and decreased significantly when the radios failed (Kruskal‐Wallis Test, P < 0.01).

Other benefits of radio tracking include: finding animals far off trail, in dense vegetation, and in inclement weather; maintaining continuous contact with the animals, which allows for more complete knowledge of ranging and foraging patterns; and monitoring group and subgroup composition. © 1994 Wiley‐Liss, Inc.
Acoustic structure of long calls in free‐ranging groups of golden lion tarnarins, Leontopithecus rosalia
Authors: Halloy Monique , Kleiman Devra G.
Published: June 2005

Like many other callitrichids, golden lion tamarins, Leontopithecus rosalia, emit Long Calls. Recordings of four free‐ranging groups were made to explore different types of Long Calls. Three Long Call types were identified acoustically, and analyzed sonographically. The calls usually started with an Introductory Syllable (a chirp, a trill, or a whine) which was followed by either one, two, or three different phrases in a fixed sequential order. Each of the three phrases was unique and contained a typical number of syllables of characteristic shape, frequencies, and durations. Possible functions of these calls are discussed. © 1994 Wiley‐Liss, Inc.
The acoustic features of gorilla double grunts and their relation to behavior
Authors: Seyfarth Robert M. , Cheney Dorothy L. , Harcourt Alexander H. , Stewart Kelly J.
Published: June 2005

Mountain gorillas (Gorilla gorilla beringei) give double‐grunts to one another in a variety of situations, when feeding, resting, moving, or engaged in other kinds of social behavior. Some double‐grunts elicit double‐grunts in reply whereas others do not. Double‐grunts are individually distinctive, and high‐ranking animals give double‐grunts at higher rates than others. There was no evidence, however, that the probability of eliciting a reply depended upon either the animals' behavior at the time a call was given or the social relationship between caller and respondent. The probability of eliciting a reply could be predicted from a double‐grunt's acoustic features. Gorillas apparently produce at least two acoustically different subtypes of double‐grunts, each of which conveys different information. Double‐grunts with a low second formant (typically < 1600 Hz) are given by animals after a period of silence and frequently elicit vocal replies. Double‐grunts with a high second formant (typically > 1600 Hz) are given by animals within 5 s of a call from another individual and rarely elicit replies. © 1994 Wiley‐Liss, Inc.
Yellow baboon labor and parturition at the Tana River National Primate Reserve, Kenya
Authors: Condit Vicki K. , Smith E. O.
Published: June 2005

An observation of the birth of a feral yellow baboon (Papio cynocephalus cynocephalus) is reported. Over an approximate 45‐min period, the late stages of labor, parturition, cleaning of the infant, and consumption of the placenta were observed. The labor and parturition occurred in the late afternoon/early evening hours, and within 5 m of the observer. A review of the literature on feral births suggests that selection may have favored both the timing and the location of births. © 1994 Wiley‐Liss, Inc.
Psychological well‐being in paired adult female rhesus (Macaca mulatta)
Authors: Eaton G. Gray , Kelley Stephen T. , Axthelm Michael K. , Iliff‐Sizemore Susan A. , Shiigi Stanley M.
Published: June 2005

We assessed the effects of social living (pairing) on improving the psychological well‐being of adult female rhesus macaques (Mucuca mulutta) housed under laboratory conditions. We measured well‐being in 12 pairs and 12 singly housed females through multiple indices of health (hematology, clinical morbidity, and body weight), stress (immune responses), behavior (preferences for social proximity, exhibition of species typical affliative behavior, and rates of abnormal behavior), and reproduction (frequency of ovulation, rates of conception, and infant survival). We selected adult females that had been living in single‐unit cages and paired them in larger cages. Care was taken to allow females to become familiar with one another before pairing took place, and pairs that fought were separated before serious injuries occurred. Singly‐housed control females were also paired for 1 week and then separated to balance the stressful effects expected to occur during the initial pairing and to assure that they were equivalent to the experimental animals in their ability to live socially. We concluded that pairing adult female rhesus monkeys was a positive experience for both the dominant and subordinate members of the pairs. They chose to spend the majority of their time involved in amicable social interactions, were more active, and they indulged in less nail biting than singly‐housed controls. There were no differences in reproduction, rates of clinical morbidity, or immune stress responses among the groups. However, pairing alone may not be sufficient to assure the well‐being of laboratory‐housed rhesus macaques, because rates of abnormal behaviors such as stereotyped movements remained high. © 1994 Wiley‐Liss, Inc.
Glutathione metabolism in primate lenses: A phylogenetic study of glutathione synthesis and glutathione redox cycle enzyme activities
Authors: Rathbun William B. , Holleschau Ann M. , Alterman Lon
Published: June 2005

Lens wet weights, soluble protein, and activities of γ‐glutiamylcysteine synthetase, glutathione synthetase, glutathione peroxidase, and glutathione reductase were determined in primate lenses. The primary sources of lenses were middle‐aged adult animals. The Primates, from 23 genera, were categorized into six superfamilies: hominoids (five species), Old World monkeys (seven species), New World monkeys (five species), tarsiers (two species), lemurs (six species), and lorisids (three species). Significant differences between various groups or combinations of groups were noted for γ‐glutamylcysteine synthetase, glutathione peroxidase, and glutathione reductase activities. Lenticular γ‐glutamylcysteine synthetase activity was very low in the Old World simian lenses and highest in the prosimians. Glutathione peroxidase activity was extraordinarily high in lenses of Old World monkeys. Glutathione reductase activity was low in all the prosimians but tenfold higher in hominoid lenses with intermediate values in monkeys of both the Old World and New World. Glutathione synthetase activity was variable, and no clear pattern which might be useful for primate classification was noted. Lenticular activity ratios of glutathione synthetase:γ‐glutamylcysteine synthetase were highest in the Old World simians and lowest in the prosimians. These data with emphasis upon Aotus and the tarsiers were examined with regard to phylogenetic relationships. © 1994 Wiley‐Liss, Inc.
Relative efficiency of preferred and nonpreferred patterns of lateralized foraging in the gentle lemur (Hapalemur griseus)
Authors: Butler Paul M. , Stafford Donna K. , Ward Jeannette P.
Published: June 2005

Lateralized patterns of hand use in species‐typical bamboo shoot foraging were evaluated for efficiency in five female and six male gentle lemurs (Hapalemur griseus sp.). Efficiency was defined as amount of time required to complete a foraging response sequence. The foraging pattern consisted of four component movements: PULL‐IN, COUNTERFORCE, TURN, and FEED‐IN. These component movements had been shown in a previous study to incorporate lateral hand biases that formed subsets of patterns that were characteristic for each gentle lemur. The duration of each foraging sequence was measured from the beginning of the first component to the initiation of the terminal component. Frequency of use scores were employed to divide the pattern sequences of each subject into preferred and nonpreferred categories. A within‐subjects comparison of the mean durations of preferred patterns (M = 2.56 sec) with those of non‐ preferred patterns (M = 3.02 sec) found that preferred patterns were executed more rapidly, t(10) = 3.36, P = .007. A multiple regression showed that order of pattern preference accounted for 89% of the variance in mean duration of response time (R2 = .89, P = .056). Thus, the use of preferred lateralized hand patterns resulted in more rapid bamboo shoot harvesting. Speed in foraging may be regarded as an adaptive strategy for a species that subsists on a high bulk, low nutrient density food such as bamboo. © 1995 Wiley‐Liss, Inc.
The upper paleolithic of Europe: An overview
Authors: Straus Lawrence Guy
Published: June 2005

The Upper Paleolithic of Europe, 40,000–10,000 years ago, presents one of the richest, most complex records for the anatomy and cultural adaptations of fossil hominids in the world. New chronological information points to roughly simultaneous appearance of certain Upper Paleolithic technological traits in both SE and SW Europe, while growing evidence suggests a significant degree of biological and cultural continuity between the Middle and Upper Paleolithic. On the other hand, there is considerable evidence that evolution continued to operate in both domains throughout the course of the late Upper Pleistocene, apparently in adaptive relationship to the major environmental changes of the Upper Pleniglacial and Tardiglacial. Spectacular developments in the realms of art and ideology may be understood in the special biogeographical, social, and economic conditions of Europe at the height of the Last Ice Age; both ended rather abruptly with the onset of the Holocene as the landscapes of Europe underwent pervasive upheavals.
The resolution of genotype × environment interaction in segregation analysis of nuclear families
Authors: Eaves Lindon J. , Rao D. C.
Published: June 2005

A model is presented for the effects of one or two loci, a measured index of the environment and genotype × environment (G×E) interaction of risk for a discontinuous trait. Initial properties of the model are explored for the single locus case, with and without the effects of environment and G×E interaction. Seven data sets were simulated, each comprising 500 nuclear families on whom an environmental index has been measured. Maximum‐likelihood estimation procedures were used to obtain parameter estimates under seven models for each data set. Likelihood ratio tests were constructed, and in all cases it was possible to identify the “correct” model for the simulated data. The matrices of information realized showed that the parameters could be estimated with acceptable precision and that the effects of genes, environment, and G×E interaction could be resolved in the simulated populations. The effects on conventional segregation analysis of ignoring the environment and G×E are considered.
Segregation analyses of stuttering
Authors: Cox N. J. , Kramer P. L. , Kidd K. K. , Rao D. C.
Published: June 2005

Although stuttering is known to be a familial disorder, no clear evidence regarding precise mode of transmission has arisen from previous research. In this report segregation analysis is applied to data on 386 stuttering probands and their first‐degree relatives in an effort to discriminate among possible genetic models for the transmission of stuttering. Two different segregation analysis programs, PAP and POINTER, gave comparable results with respect to both hypothesis testing and parameter estimation. Specifically, the transmission of stuttering observed in these families cannot be adequately explained by a Mendelian major locus. The hypothesis of no polygenic component in the transmission of stuttering can, however, be rejected. Existence in these data of potential heterogeneity and possible violations of assumptions concerning ascertainment are considered in interpreting the results.
The detection of major loci by segregation and linkage analysis: A simulation study
Authors: Goldin Lynn R. , Cox Nancy J. , Pauls David L. , Gershon Elliot S. , Kidd Kenneth K. , Rao D. C.
Published: June 2005

Simulated multigenerational pedigrees were analyzed using the program GENPED and POINTER to examine the 1) limits of segregation analysis for detecting single locus, two‐allele transmission of a dichotomous trait and 2) accuracy of the parameter estimates. Ten data sets of 30 pedigrees each (approximately 25 persons per pedigree) were simulated. The genotypic penetrance values were varied but the population prevalence of the trait was kept constant at 2%. For some data sets a linked marker locus was also simulated. Previous results had shown that a single major locus could be easily detected when the heterozygote penetrance (f1) was high or midway between the two homozygote penetrances. In this study, we found a single major locus could not be consistently detected by either method of segregation analysis when f1 was “low” to “intermediate.” Accuracy of the parameter estimates depended on assumptions about the population prevalence. In those cases where the major locus could not be detected by segregation analysis, linkage to a marker locus could be detected as long as the marker was closely linked and there were not phenocopies in the population. Owing to the limited number of simulations in this study, we cannot generalize these findings. However, they provide a basis for further testing of methods of segregation analysis when factors such as the parameter values, family structure, and ascertainment scheme are varied.
Major locus inheritance of apolipoprotein B in Utah pedigrees
Authors: Hasstedt Sandra J. , Wu Lily , Williams Roger R. , Rao D. C.
Published: June 2005

A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 ± 2.5, 141.9 ± 4.4, and 208.1 ± 11.5 for low homozygotes, heterozygotes, and high homozygotes, respectively. The corresponding genotypic frequencies were 0.718, 0.259, and 0.023. the apoB locus explained 13% and 14% of the variance in total and low‐density‐lipoprotein cholesterol levels, respectively. Persons with elevated apoB had normal to high levels of total serum cholesterol and triglyceride and low to normal levels of high‐density lipoprotein and apolipoprotein A‐I. Sixteen members of three of the pedigrees were heterozygous for familial hypercholesterolemia (FH). Their apoB levels were estimated as 35.72 ± 7.16 mg/dl above the apoB genotypic means, assuming that the two loci act independently. Therefore, two major loci, the FH locus and the apoB locus, affect two levels, apoB and LDL cholesterol.
Efficient methods for computing linkage likelihoods of recessive diseases in inbred pedigrees
Authors: Kong Augustine , Rao D. C. , Vogler G. P.
Published: June 2005

Traditional methods for computing linkage likelihoods can be infeasible for data that involve considerable inbreeding and missing information, characteristics of large pedigrees affected by rare recessive diseases. For this type of data, we propose alternative procedures that can efficiently provide good approximates of linkage likelihoods. These approximation procedures are constructed based on a new mathematical representation of the multiloci inheritance model. Instead of representing each person by a single variable, the genotype, the disease gene alleles, and the marker alleles are taken as separate variables. This allows us to break down the computations into manageable pieces. This new representation is also potentially useful for multipoint mapping.
Pedigree analysis of blood pressure in subjects from rural Greece and relatives who migrated to Melbourne, Australia
Authors: Hopper John L. , Macaskill Greg T. , Powles John W. , Ktenas Dimitri , Chakravarti Aravinda
Published: June 2005

Diastolic blood pressure readings taken in 1983–1984 on 1,474 Greek individuals (628 living on the island of Levkada, 846 relatives having migrated to Melbourne, Australia) from 204 two generational pedigrees were analysed. Blood pressure was regressed as a quadratic in age by sex and migrant status, and on temperature. Variance increased with age and was greater in migrant males. The covariance between relatives in different countries was significant. Variation was modeled by a multivariate normal model for pedigree analysis in terms of genetic effects, a common environment effect, and effects particular to an individual. The genetic component was 25.9 mm Hg2, independent of sex and migrant status. Importantly, the common environment component was not significant. The third component was greatest in migrant males. Spouse correlation was −0.09 (SE = 0.03). Exclusion of 86 individuals who reported currently receiving medication for elevated blood pressure stabilised the variance and decreased the genetic component. The data suggest that familial aggregation of diasatolic blood pressure is due to genetic factors which produce the same variation in males and females, living on Levkada or in Melbourne. Nongenetic factors explain the greater variation in blood pressure of migrant males living in Melbourne. © 1992 Wiley‐Liss, Inc.
Dietary intake and gene variation influence the response of plasma lipids to dietary intervention
Authors: Talmud Philippa J. , Boerwinkle Eric , Xu Chun‐fang , Tikkanen Matti J. , Pietinen Pirjo , Huttunen Jussi K. , Humphries Steve , Chakravarti Aravinda
Published: June 2005

We have examined whether variation at the apolipoprotein (apo) B, apo E, apo AII, and apo AI‐CIII‐AIV genes affected the relationship between dietary intake and serum lipid traits in individuals who had participated in dietary intervention from a basal high fat diet to a low fat diet followed by a return to their natural diet, the switchback. On both the basal and switchback diets where the variance of dietary intake was great, there was a significant correlation between P/S ratio and serum total, low‐density lipoprotein (LDL) cholesterol, and apo A1 levels. In addition dietary cholesterol (dchol) levels correlated significantly with serum apo A1 levels on the basal diet. Comparing the difference between basal and intervention (Δ1) and between switchback and intervention diets (Δ2), changes in dchol and P/S ratio correlated significantly with changes in serum total, high‐density lipo‐protein (HDL) and LDL cholesterol, and apo B levels. There was a significant correlation between monounsaturated fatty acid (MUFA) and apo A1 levels during both changes. Furthermore we have examined whether the relationship between variables was homogeneous among genotypes of candidate gene polymorphisms. A heterogeneous effect (P < 0.01) was seen among genotypes of the PvuII‐AIV restriction fragment length polymorphism (RFLP) on the correlation of serum LDL cholesterol levels and dietary MUFA during both dietary changes (Δ1 and Δ2). A heterogeneous effect among genotypes of the apo B XbaI RFLP on the correlation between dchol versus total and LDL cholesterol during the change Δ1, but not Δ2, was observed. Thus our results show that both dietary components and genetic variation affect the response of serum lipid, lipoprotein, and apolipoprotein levels to dietary change. © 1992 Wiley‐Liss, Inc.
Family study of α1‐antitrypsin deficiency: Effects of cigarette smoking, measured genotype, and their interaction on pulmonary function and biochemical traits
Authors: Silverman Edwin K. , Province Michael A. , Campbell Edward J. , Pierce John A. , Rao D. C. , Boerwinkle Eric
Published: June 2005

To gain insight into the variable expression of lung disease in α1‐antitrypsin (α1AT) deficiency, five quantitative variables including forced expiratory volume at 1 sec (FEV1), forced expiratory flow rate between 25 and 75% of forced vital capacity (FEF25–75), total serum α1AT, oxidized serum α1AT, and total serum immunoglobulin E (IgE) were measured in α1AT deficient individuals and their families. The effect of a known, measured genotype (the Pi type) was estimated for each quantitative trait; the influence of mode of case ascertainment on the measured genotype effect was also assessed. These analyses showed that total α1AT levels are strongly influenced by Pi type; IgE levels are unaffected by Pi type; and FEV1, FEF25–75, and oxidized α1AT are moderately influenced by Pi type. The effect of genotype‐by‐environment interaction between Pi type and pack‐years of cigarette smoking on the five quantitative phenotypes was studied using an analysis of covariance. Significant Pi × pack‐years interaction was evident for FEV1, but this effect is confounded in this data set with the Pi × age interaction. Probands who were ascertained because they had chronic obstructive pulmonary disease (COPD) do not demonstrate the significant Pi × pack‐years interaction effect on FEV1 which Pi Z subjects ascertained for other reasons demonstrate. The effect of the Pi × pack‐years interaction on FEV1 was no longer significant on a transformed scale, (FEV12,) thus providing an additive scale for future data analysis. The increased sensitivity of Pi MZ individuals in our sample to cigarette smoking reduced the Pi × packs‐years interaction effect on FEF25–75 to borderline significance. This investigation has provided an opportunity to incorporate both measured genotype and genotype‐by‐environment interaction analyses into the study of the variable expression of lung disease in Pi Z individuals. © 1992 Wiley‐Liss, Inc.
Commingling analysis of memory performance in offspring of Alzheimer patients
Authors: Smalley Susan L. , Wolkenstein Bonnie H. , LaRue Asenath , Woodward J. Arthur , Jarvik Lissy F. , Matsuyama Steven S. , Chakravarti Aravinda
Published: June 2005

Dementia of the Alzheimer type (DAT) is a neurodegenerative disorder which afflicts approximately 3% of the population. Genetic influences are indicated from twin and family studies although genetic heterogeneity has been suggested from both pedigree analyses and linkage investigations. Autosomal dominant inheritance with age‐dependent penetrance has been suggested in at least some families with DAT. In the present investigation, we examine memory and nonmemory task performance in 106 asymptomatic offspring (mean age 40.6 years) of 54 DAT probands. Intraclass sibling correlations revealed little evidence of sibling similarity for performance on three memory tasks which have been reported to be relatively sensitive to the memory losses accompanying DAT. Subsequent investigations of the distributions of the cognitive task scores in the offspring revealed evidence for a commingling of two distributions for the three memory tasks but not for the nonmemory measures. These findings are consistent with a hypothesis that these distributions reflect genotypic subgroups, carriers, and noncarriers, of a presumed DAT gene. © 1992 Wiley‐Liss, Inc.
Two‐Locus models of disease
Authors: Neuman Rosalind J. , Rice John P. , Chakravarti Aravinda
Published: June 2005

Most complex diseases have not been amenable to genetic analysis under the assumption of single locus or multifactorial models. Consequently, interest has turned to the consideration of the properties of oligogenic models. i.e., genetic models involving a small number of genes. Nine two‐locus models of disease, representing both epistatic and heterogeneous genetic models, are investigated: three models of heterogeneity and six models of epistatis. For each model we derive formulas for the recurrence risk to various classes of relatives in terms of penetrances and gene frequencies. We also develop formulas for the components of variance for the epistatic models in terms of the same genetic parameters. The range of penetrances and the associated gene frequencies that predict a predetermined value for the population prevalence and recurrence risk to the sibling of proband are calculated for various rates of the prevalence and risk to sibs. It is found that for many of these genetic models, there is a very limited range of penetrances that fit a particular set of assumed risks. Estimated population prevalence and risks to sibs and monozygotic twins for bipolar and schizophrenia illness are used to test for compatibility with expected values for recurrence risks under these models. © 1992 Wiley‐Liss, Inc.
Numerical comparisons of two formulations of the logistic regressive models with the mixed model in segregation analysis of discrete traits
Authors: Demenais Florence M. , Laing Amelia E. , Bonney George E.
Published: June 2005

Segregation analysis of discrete traits can be conducted by the classical mixed model and the recently introduced regressive models. The mixed model assumes an underlying liability to the disease, to which a major gene, a multifactorial component, and random environment contribute independently. Affected persons have a liability exceeding a threshold. The regressive logistic models assume that the logarithm of the odds of being affected is a linear function of major genotype effects, the phenotypes of older relatives, and other covariates. A formulation of the regressive models, based on an underlying liability model, has been recently proposed. The regression coefficients on antecedents are expressed in terms of the relevant familial correlations and a one‐to‐one correspondence with the parameters of the mixed model can thus be established. Computer simulations are conducted to evaluate the fit of the two formulations of the regressive models to the mixed model on nuclear families. The two forms of the class D regressive model provide a good fit to a generated mixed model, in terms of both hypothesis testing and parameter estimation. The simpler class A regressive model, which assumes that the outcomes of children depend solely on the outcomes of parents, is not robust against a sib–sib correlation exceeding that specified by the model, emphasizing testing class A against class D. The studies reported here show that if the true state of nature is that described by the mixed model, then a regressive model will do just as well. Moreover, the regressive models, allowing for more patterns of family dependence, provide a flexible framework to understand gene–environment interactions in complex diseases. © 1992 Wiley‐Liss, Inc.
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec
Authors: De Braekeleer M. , Giasson F. , Mathieu J. , Roy M. , Bouchard J. P. , Morgan K.
Published: June 2005

Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay‐Lac‐St‐Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at 1/1,932 liveborn infants and 1/22 inhabitants, respectively, for the period 1941‐‐1985. The mean inbreeding coefficient was twice higher and the mean kinship coefficient 3 times higher among the ARSACS families than among control families. In the SLSJ region, the birth places of the ARSACS individuals and their parents did not show a clustered distribution. The genealogical reconstruction suggests that the high incidence of ARSACS in SLSJ and Charlevoix is likely to be the result of a founder effect. Because the disease is apparently unknown elsewhere in the world and a high proportion of French Canadians presently living in eastern Quebec have ancestors coming from Perche, a small region in France, it also suggests that a unique mutation accounts for most, if not all, of the ARSACS cases known in these regions. © 1993 Wiley‐Liss. Inc.
Role of genetic variation at the Apo AI‐CIII‐AIV gene cluster in determining plasma Apo AI levels in boys and girls
Authors: Xu Chun‐Fang , Angelico Francesco , Ben Maria Del , Humphries Steve
Published: June 2005

We have investigated the effect of the G/A substitution in the promoter region of the apolipoprotein (apo) AI gene (−75 bp) on plasma lipid, lipoprotein and apolipoprotein levels in a sample of 204 children from central Italy. The subjects included 111 boys and 93 girls, aged 8–11 years old. The frequency of the A allele was 0.19 in the total sample, and 0.21 and 0.17 in boys and girls, respectively. Using analysis of variance, we found the G/A substitution was significantly associated with plasma levels of total cholesterol, LDL cholesterol, apo B, and apo AI in boys, accounting for 7.0, 4.2, 5.3, and 4.3% of the sample variance, respectively. Individuals with an A allele had higher mean levels of these lipid traits than individuals homozygous for the G allele. A dietary intervention study had been carried out in a subset of these children, and the effect of the G/A substitution on plasma apo AI levels remained when boys changed to a low fat low cholesterol diet. However, no significant association was observed in girls between any of the lipid traits and the G/A genotypes. We have previously reported in this sample of children that the two polymorphisms detected with restriction enzyme PvuII, with variable sites in the first intron of the apo CIII gene (Pvu II–CIII) and the apo CIII–AIV intergenic region (Pvu II–AIV), were associated with significant differences on plasma apo AI levels. We found that the association reached statistical significance in boys only in this study. Taking these three polymorphisms together, the effects on plasma apo AI levels were additive in boys, accounting for 20.0% of the sample variance. Boys having the genotype GG/V−V+ of the G/A substitution and the PvuII–AIV RFLP had mean apo AI levels 36 mg/dl lower than boys with the genotype GA + AA/V−V−. In girls, however, there was evidence of significant interaction of effects between the PvuII–AIV RFLP and the G/A substitution (P < 0.04), with the A allele being associated with higher levels of plasma apo AI only in girls having the rare allele (V+) of the PvuII–AIV RFLP. We conclude that genetic variation at the apo AI‐CIII‐AIV gene cluster is having a major impact on the determination of plasma apo AI levels in this sample of young boys, with additive effects due to functional changes at several places in this gene cluster detected directly (G/A) or in allelic association with the PvuII–CIII and PvuII–AIV polymorphisms. These effects are not modulated by diet but are modulated by other factors, possibly hormones, which are present in girls. © 1993 Wiley‐Liss. Inc.
Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia
Authors: Jarvik Gail Pairitz , Beaty Terri H. , Gallagher Paul R. , Coates Paul M. , Cortner Jean A.
Published: June 2005

A sample enriched for familial combined hyperlipidemia (FCHL) was examined for evidence of an association between genotype at an apolipoprotein B (apoB) elevating locus defined by complex segregation analysis and FCHL. Complex segregation analysis detected a locus with a large effect on plasma apoB levels and was used to compute the most probable genotype of family members. None of the 35 normolipidemic adults carried a copy of the allele associated with elevated apoB levels, yet 58% of the 109 adults with FCHL carried 1 (29%) or 2 (28%) copies. Two of 28 (7%) normal children had 1 copy of this allele and none had 2 copies, while 88 of 182 (48%) children with FCHL had 1 (26%) or 2 (22%) copies. Further, 4l of 48 (85%) individuals classified as having hyperapobetalipoproteinemia did not carry a copy of this “elevated apoB” allele. Therefore, the presence of the allele associated with elevation of apoB level is highly predictive of FCHL and this association cannot be explained solely by the presence of elevated apoB levels in FCHL, suggesting that the locus controlling apoB levels may play an etiologic role in FCHL. © 1993 Wiley‐Liss, Inc.
AGFAP Method: Applicability under different ascertainment schemes and a parental contributions test
Authors: Thomson Glenys
Published: June 2005

The antigen/allele genotype frequencies among patients (AGFAP) method has been powerful in discriminating between modes of inheritance, and detecting heterogeneity effects, for a number of diseases associated with the HLA system. The method is not dependent on the high level of polymorphism seen in the HLA system, but does require a marker allele association with disease. With recent rapid advances in mapping of the human genome, the method is increasingly relevant in all disease studies. Extension of the AGFAP method to ascertainment schemes other than random sampling of patients is presented here. The method is shown to be robust for distinguishing between incompletely penetrant recessive vs. additive or dominant models if affected children are obtained from nuclear families selected on the basis of at least two affected members: two affected sibs, or an affected parent and affected child. The method can lead to false conclusions for data from families ascertained for at least one affected parent and two affected children. A new test, termed the parental contributions test, applicable in families selected for the presence of an affected parent, and one or more affected children, is presented. The test, based on the expected symmetry (recessive) vs. asymmetry (additive and dominant) of parental marker allele contributions to an affected offspring in these pedigrees, is powerful in distinguishing between these modes of inheritance when there is a marker allele association with disease. Sporadic cases of disease are shown to cause deviations from AGFAP expectations for the recessive model, but not for the additive model. These results will aid in study of the genetics, and hence molecular basis, of complex diseases. © 1993 Wiley‐Liss, Inc.