bluuebunny/crossref_metadata_2025_split huggingface dataset:
Locomotor energetics and hominid evolution
Authors: Steudel Karen L. 
Published: June 2005

AbstractThe presence of a bipedal gait in fossil apes is now recognized as the earliest paleontological evidence of the beginnings of the human lineage. Thus, the search for the selective pressure that led to the adoption of bipedal posture and gait is the search for the origins of the human adaptation. One of the most popular candidates for the origin of erect posture is its purported energetic advantage.1–4This argument is reevaluated in light of data on the energetic cost of locomotion in mammals and, particularly, data on the effect of bipedalism on cost. I go on to discuss what morphological traces we might expect to see of changes in the locomotor economy of our ancestors once bipedalism became established.
Are the early holocene cattle in the eastern sahara domestic or wild?
Authors: Wendorf Fred , Schild Romuald 
Published: June 2005

AbstractQuestions relating to the antiquity of domestic cattle in the Sahara are among the most controversial in North African prehistory. It is generally believed that cattle were first domesticated in southwest Asia, particularly Anatolia, or in southeast Europe, where their remains have been found in several sites dated between 9,000 and 8,000 years ago.1 The discovery, in several small sites in the Western Desert of Egypt, of large bovid bones identified as domestic cattle and having radiocarbon dates ranging between 9,500 and 8,000 B.P. has raised the possibility that there was a separate, independent center for cattle domestication in northeast Africa (Fig. 1).2–4 However, it has not been universally accepted that these bones are from cattle or, if so, that the cattle were domestic.
A whole new world of ancestors: Eocene anthropoideans from Africa
Authors: Simons Elwyn L. , Rasmussen Tab 
Published: June 2005

AbstractThe last decade has witnessed enormous gains in our knowledge of early anthro‐poidean primates,“Anthropoidean” refers to members of the suborder Anthropoidea, whch contaings New and Old world monkeys, apes, and humans. These primates are also often called “simians,” “simiiforms” or “anthropoids;” the latter term is potentially confusing because it has often been used to refer only to the great apes.
the oldest known relatives of monkeys, apes and humans. Recent fossil finds in Egypt, Algeria, Tunisia, and Oman, along with the associated geological research at these sites, have radically changed our models of anthro‐poidean origins and differentiation. Instead of first appearing as robust‐jawed herbivorous primates in the earliest Oligocene, it is now apparent that there was radiation of small‐bodied, fruit‐and‐insect‐eating anthropoideans during the Eocene. These early forms included at least two oligopithecines (squirrel‐monkey‐sized primates with a catarrhine dental formula) and two early “parapithecid monkeys” (three‐premolared primates with lumpy, bunodont dentitions). In addition, several smaller species from Algeria and Egypt, ranging in size from pygmy marmosets to tamarins, are not definitely assignable to previously known families. Alongside the early anthropoideans, there are also at least four recently identified prosimian families. The continental Eocene of Africa—for years, little more than a blank on the paieontologi‐cal map—now comprises an increasingly productive field source of new data that is important in deciphering phyletic and adaptive aspects of the prosimian‐anthropoid transition.
The spread of language around the pacific rim
Authors: Nichols Johanna 
Published: June 2005

AbstractThe spread of humans around the Pacific rim, ultimately to colonize the Pacific and the New World, began about 50,000 years ago. The languages of Australasia and the New World are a reservoir of potential clues to the chronology, origins, and process of human colonization, and linguists are seeking methods to tap this reservoir. Standard linguistic comparative‐historical method is unable to reach back in time more than about 8,000 years because regular grammar change and vocabulary loss gradually remove its most important evidence. The oldest well‐established and reconstructable language families are about 6,000 years old. Therefore, tracing those families ever farther back in time is not a possible way of recovering deep linguistic prehistory. Rather, it is the very discretness of the nearly 300 distinct language families on earth that makes it possible to define populations, map the distribution of diagnostic structural features in language, and thereby trace the spread of languages and colonization around the Pacific rim to their origins in the upper Paleolithic.
Early food production in Africa
Authors: Bower John 
Published: June 2005

AbstractThe study of early food production in sub‐Saharan Africa is at least as challenging as it is rewarding. Problems arise in large degree from the scarcity of relevant archeological material, particularly the remains of domesticated plants from prehistoric sites. This is attributable to several factors, including poor preservation, difficulties in recovering such material, and the limited amount of work so far invested in obtaining it. But, problems notwithstanding, fresh data and new methodological approaches have revealed aspects of early African food production that are interesting in themselves, as well as in global perspective. For example, contrary to what occurred in most other parts of the world, livestock herding in Africa often predated the earliest evidence of cultivation of domesticated plants. Moreover, the initial spread of food production throughout much of sub‐Saharan Africa was accompanied by iron, rather than lithic, technology.This overview of current knowledge about early African food production is aimed at highlighting developmental patterns while also exposing limitations in our understanding of these patterns. Because of Africa's vast size, uniform coverage in reasonable depth of all parts of the continent is not possible. Thus, for example, I will not explicitly cover the complex neolithic record from Africa's Mediterranean region. Instead, I will generally concentrate on bodies of data and lines of investigation that characterize distinctive features of the African version of initial steps in raising crops and animals.
Genetic epidemiology of coeliac disease
Authors: Tiwari J. L. , Betuel H. , Gebuhrer L. , Morton N. E. , Rao D. C. 
Published: June 2005

AbstractSegregation analysis favors a gene additive on liability with a frequency of 0.022, which is nearly recessive on the penetrance scale. Less than one‐eighth of DR3 and DR7 haplotypes carry a determinant for coeliac disease. There is significant excess of DR3/7 heterozygotes among patients, indicating that the determinants are qualitatively different in DR3 and DR7 haplotypes. Linkage to HLA is highly significant (maximum lod score = 10.9). Evidence for recombination of 8% in males is attributed to residual errors in the model. We suggest an approach to a more precise model.
Aggregation of colon cancer in family data
Authors: Bale Sherri J. , Chakravarti Aravinda , Strong Louise C. , Rao D. C. 
Published: June 2005

AbstractAlthough only a small proportion of common cancers show familial aggregation, studying such families can elucidate the roles of shared environment and genes in the development of neoplasia. We report an analysis of nine colon cancer pedigrees using new nonparametric objective methods to measure familial aggregation as a means of determining the existence of heterogeneity in the data. Each family was selected through a proband with nonpolyposis colon cancer who had a first‐degree relative with documented colon cancer. To assess the aggregation of different cancers in these families we employ a method which evaluates both excess number of cases as well as distribution by risk in family members. We find that eight of the nine families exhibit significant aggregation of colon cancer: endometrial cancer aggregates in three families, breast in none, kidney in one, and all sites in eight. In this way, we show that two families fit the criteria for Cancer Family Syndrome, and that one is not a high‐risk cancer family.
A genetic and environmental analysis of a twin family study of alcohol use, anxiety, and depression
Authors: Clifford Christine A. , Hopper John L. , Fulker David W. , Murray Robin M. , Rao D. C. 
Published: June 2005

AbstractAlcohol consumption, anxiety, and depression were measured by questionnaire in 572 twin families ascertained from the Institute of Psychiatry (London) normal twin register, each family consisting of an adult twin pair, their parents, and siblings‐a total of 1,742 individuals. A multivariate normal model for pedigree analysis was applied to each variable, with power transformations fitted to maximise the fit with distributional assumptions. The effect of shared twin environment was estimated by considering the measured cohabitation history of twin pairs. For log‐transformed alcohol consumption, amongst current drinkers this effect was the same for MZ and DZ pairs but depended on the cohabitation status of pairs. For both anxiety and depression the effect was clearly not the same for MZ and DZ pairs. Therefore the basic assumption of the classical twin method appears to be invalid for all three traits. Estimates of heritability derived from these analyses were compared with those obtained (1) by applying the classical twin method to twin data only, and (2) by a pedigree analysis ignoring the effect of shared twin environment. For all variables there were considerable differences between estimates based on the three models. This study illustrates that data from twins and their relatives which includes information on cohabitation history might distinguish shared genes and shared environment as causes of familial aggregation. In these behavioral traits the effect of shared twin environment may depend on zygosity and play a major role in explaining familial aggregation in twin family data.
Huntington disease: Estimation of heterozygote status using linked genetic markers
Authors: Conneally P. Michael , Wallace Margaret R. , Gusella James F. , Wexler Nancy S. , Rao D. C. 
Published: June 2005

AbstractThe recent finding of a closely linked DNA marker to the Huntington Disease gene allows the opportunity for prenatal and preclinical diagnosis. The methodology for using these markers for prediction in late age of onset disorders is discussed. Since these methods are both difficult and complex for the majority of genetic counselors, a simple solution is suggested. This involves using the well known linkage program LIPED and running it twice for a given consultand, once assuming he carries the gene and once that he is homozygous normal. This will allow accurate predictions for counselors with limited backgrounds in pedigree analysis.
The collaborative lipid research clinics program family study: Detection of major genes influencing lipid levels by examination of heterogeneity of familial variances
Authors: Green Philip , Owen A. R. G. , Namboodiri Kadambari , Hewitt David , Williams Lynn R. , Elston R. C. , Rifkind Basil M. , Rao D. C. 
Published: June 2005

AbstractAge, sex‐adjusted, and transformed lipid and lipoprotein data on over 1,200 white North American sibships in the Collaborative Lipid Research Clinics Family Study were analyzed for possible major genes causing high or low levels of these traits. The sibships were stratified on the basis of parents' trait values, and within‐sibship variance in the high (or low) families was compared to that in the normal families via an F‐test. The null hypothesis of multifactorial transmission was strongly rejected for low LDL, low total cholesterol, and high HDL families. An analysis of spouse‐pair variance gave similar results. This may reflect the presence of dominant genes for hyperalpha‐ and hypobetalipoproteinemia. There was weaker evidence for single genes causing hyperbetalipoproteinemia. There was no evidence for major genes influencing triglyceride levels. Methodological issues with significant bearing on these results and those of other studies are discussed.
Genetic analysis workshop II: Study of problem 2 linkage relationships by different methods
Authors: Demenais F. , Darlu P. 
Published: June 2005

AbstractSegregation and linkage analyses were performed on Problem 2 simulated data. Segregation analysis showed evidence for a nearly recessive major susceptibility locus with parameter estimates close to the simulation input values. Linkage analyses between this susceptibility locus (X) and the ten marker loci (A to J) led us to propose the following map: X‐G‐F‐B.
No evidence for linkage between an insulin‐dependent diabetes mellitus‐susceptibility locus and immunoglobulin loci KM or GM
Authors: Field L. Leigh , Goldstein Alisa , Spence M. Anne , Anderson C. E. , Rimoin David L. , Rao D. C. 
Published: June 2005

AbstractWe studied 52 families having more than one member affected with insulin‐dependent diabetes mellitus (IDDM) for linkage of an IDDM‐susceptibility locus to the immunoglobulin loci KM and GM. Linkage was analyzed by the LOD score method using single‐locus recessive and dominant models of IDDM inheritance, with penetrances of the disease‐susceptible genotypes being dependent on age and reaching a maximum of 20% by age 40. We found no evidence for linkage of IDDM to KM or GM. Close linkage (recombination fraction <5%) was rejected for KM under the recessive model and for GM under both models. These results suggest either that there are no IDDM‐susceptibility loci closely linked to KM or GM or that use of a single‐locus model of IDDM (which ignores the effects of the susceptibility locus in the HLA region) is inadequate for their detection.
A statistical test for detection of ancestral genetic contributions to disease occurrence in finite populations
Authors: Hauck Walter W. , Martin Alice O. , Rao D. C. 
Published: June 2005

AbstractWe have been investigating cancer patterns in the Hutterites, a religious isolate residing on communal farms [Martin et al, 1980a,b,c]. Advantages of this population include extensive and accurate genealogies, essentially complete case ascertainment, and relatively uniform environmental background with regard to geographic location, lifestyle, and diet. However, application of the common epidemiological approach to familial risk assessment based on incidence in relatives of index cases [Haenszel, 1959] posed difficulties because all cases are probands. We also planned to employ matching to control for important confounders and thus had to deal with the problems of the matching of cases and controls as well as the existence of complex inbreeding [Hauck and Martin, 1982]. Our basic approach was to compare coefficients of kinship (Fm, a measure of coancestry) of cases with each other to coefficients between cases and matched controls drawn from the same population. We have developed a paired t‐type statistic to assess the significance of observed differences.We present, as examples, application of our methods to the analysis of Hutterite data on neurofibromatosis, known to be inherited in autosomal dominant fashion, and on cancer. Neurofibromatosis showed significant familial aggregation, as expected. Breast, colon‐rectal, and stomach cancer did not. We then show how to evaluate power and to determine appropriate sample sizes for detecting specified increases in kinship.
A linkage analysis of the Gm locus and multiple sclerosis
Authors: Haile R. W. C. , Goldstein A. , Field L. , Marazita M. L. , Rao D. C. 
Published: June 2005

AbstractWe conducted linkage analyses of immunoglobulin G heavy chain marker (Gm) phenotypes and multiple sclerosis (MS) in 30 families, each having at least two first‐degree relatives with definite/probable MS. These families yielded positive evidence for linkage to human leukocyte antigen (HLA) loci in previous analyses. In the present analysis, however, the results for Gm were negative. Most lod scores were negative, particularly at the smaller recombination values (θ). We explored the possibility of heterogeneity by subgrouping our data on the basis of specific HLA types (A3, B7) and Gm types (Gm1, Gm1,2) within the pedigrees. The results were again negative with no substantial differences in estimates of θ between subgroups.
False‐positive reporting of Down syndrome on Ohio and New York birth certificates
Authors: Johnson Karen M. , Huether Carl A. , Hook Ernest B. , Crowe Carol A. , Reeder Barbara A. , Sommer Annemarie , McCorquodale Maureen M. , Cross Philip K. , Rao D. C. 
Published: June 2005

AbstractAlthough correction for underreporting of congenital malformations on birth certificates is included in most studies, inaccuracy of reporting has not been widely examined. Two separate investigations were conducted on the inaccuracy of Down syndrome (DS) reporting on birth certificates; ie, false‐positive cases in which an individual coded as DS did not in fact have DS. In Ohio, 824 individuals were coded as DS on their birth certificate during 1970–1981. Of these, a definitive determination as to whether or not they had DS was made on 778 by using cytogenetic data, medical records, the state's birth defects registry, school records, and by questioning physicians. Fifty‐seven false‐positives were found, indicating a 7.8% level of coding inaccuracy for all races and 6.9% for whites only. Nine of these arose from miscodings during data processing; 48 were misdiagnosed as DS. This can be contrasted with false‐negatives also studied in Ohio, where 66.1% of DS cases were not reported on the birth certificate. No statistical differences were observed between false‐positives and true DS in the distribution of sexes, in population size of county of birth, or in year of birth (although there was a declining false‐positive rate over the 12 year period). The percentage of DS false‐positives, however, was significantly higher for younger maternal ages (⩾30 years) than older ones (⩾30 years) and for nonwhites compared to whites. Further, there was a strong negative correlation between the percentage of false‐positives and the degree of certainty expressed in reporting DS on the birth certificate.
Genetic analysis workshop III: Two‐point linkage analysis on pedigrees, nuclear families, and sibships
Authors: Cox Nancy J. , Suarez Brian K. 
Published: June 2005

AbstractTwo‐point linkage analyses yielded correct identification of linkage groups and good estimates of recombination frequencies in both males and females. Additional analyses compared various family structures for the total number of typed individuals necessary to detect linkage. Results suggest that for codominant markers with moderate recombination frequency, pedigrees may not provide substantial savings over nuclear families.
Genetic analysis workshop III: Combining two‐point analyses under the constraints of a linear map and a constant female/male distance ratio
Authors: Ott Jurg 
Published: June 2005

AbstractFor each pair of loci among the four loci in a linkage group, a two‐point analysis was performed. It consisted of estimating means, variances, and correlation of male and female recombination fractions and approximating the joint likelihood by a bivariate normal density. The pairwise results were assumed independent and combined. The resulting likelihood was maximized over five parameters: three map distances, a constant ratio of female‐to‐make distance, and the parameter in Felsenstein's mapping function.
Genetic analysis workshop III: Two‐point analysis of multipoint data
Authors: Anne Spence M. , Marazita Mary L. , Hodge Susan E. 
Published: June 2005

AbstractA three‐step procedure was employed to analyze the workshop data. Pairwise lod scores were computed using LIPED and were utilized for estimating the recombination frequencies and thereby order among loci, This approach proved sufficient to identify accurately and to order the two linkage groups. Coincidence and interference were estimated. Associations between the alleles were tested. The following is a brief summary of this study. Detailed results or program listings are available upon request.
Studies on vitiligo. II. Familial aggregation and genetics
Authors: Das S. K. , Majumder Partha P. , Majumdar T. K. , Haldar B. , Rao D. C. 
Published: June 2005

AbstractData on 298 pedigrees, each collected through an affected proband, have been analyzed to study familial aggregation and genetics of vitiligo. The extent of familial aggregation is statistically significant at the 5% level. The disease does not appear to be inherited in a simple dominant or recessive fashion. The herita‐bility of liability to the disease is 46% ± 4.82%. Neither common family environment nor a major locus with additional sources (environmental and/or polygenic) can be excluded as a cause of familial aggregation. Association of the disease with six polymorphic genetic marker loci have been studied. Significant associations with ACP1 and RH loci have been found. This and earlier studies indicate that the disease is associated with genetic loci on different chromosomes, which points to a polygenic nature of the disease.
Effects of household sharing on high density lipoprotein and its subfractions
Authors: Hasstedt Sandra J. , Kuida Hiroshi , Owen Ash K. , Williams Roger R. , Rao D. C. 
Published: June 2005

AbstractHousehold effects accounted for significant proportions of the observed variance of high density lipoprotein cholesterol (HDL‐C) and subfractions HDL2 and HDL3. It was found that 19.3% of HDL‐C variance could be attributed to a juvenile sib effect (under age 18); 17.4% of HDL2 variance could be attributed to a sib effect (of any age); and 22.1% and 32.6% of the HDL3 variance could be attributed to a parent‐offspring effect and a sib effect (of any age), respectively. In addition, additive genetic effects accounted for 56.5%, 37.3%, and 28.3% of the variances of HDL‐C, HDL2, and HDL3, respectively. These are maximum likelihood estimates obtained using a variance components model on 2,149 HDL‐C levels measured on members of 54 Utah pedigrees, and 337 HDL2 and HDL3 levels measured on a subset of 14 pedigrees.
Interaction of genetics and epidemiology in the literature
Authors: Khoury Muin J. , Beaty Terri H. , Cohen Bernice H. , Rao D. C. 
Published: June 2005

AbstractTo evaluate the extent of interraction between genetics and epidemiology in studies reported in the literature, we reviewed all the “familial/genetic” papers published in a standard epidemiology journal (American Journal of Epidemiology, AJE) and all the “epidemiology” papers published in a standard human genetics journal (American Journal of Human Genetics, AJHG) between 1966 and 1984. A variety of medline subject headings were used in this search. Computerized listings of titles, subject headings, and abstracts were reviewed. It could be shown that familial/genetic papers constituted 4.3% of all papers published in AJE and epidemiology papers constituted 16.4% of papers published in AJHG. Over time, familial/genetic studies published in AJE increased both in number and in proportion of all papers, and more family studies are using complex statistical genetic techniques. On the other hand, epidemiology papers published in AJHG did not increase in number over time, and actually decreased in relation to all papers. These papers were mostly either descriptive (eg, defining frequencies of Mendelian traits in populations) or analytical (eg, defining risk factors for chromosomal abnormalities, and other reproductive outcomes). This analysis suggests that epidemiologic methods have been widely used in the genetic literature, and that genetic methods are gaining more access to the recent epidemiology literature. Because of increasing recognition of the role of genetic factors in disease, there is a growing need to incorporate both genetic and epidemiologic methods in etiologic studies of complex disorders.