bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ancient DNA studies
Authors: Hagelberg Erika 
Published: June 2005

AbstractNow that the hype surrounding Jurassic Park has settled down and we have become relatively used to dramatic headlines announcing the recovery of DNA from exotic fossilized remains, scientists working on ancient DNA are beginning to reflect on the long‐term prospects and implications of the subject.1 The science of ancient DNA has grown exponentially since its birth only ten years ago, and despite serious technical difficulties, it promises to become a revolutionary research tool in anthropology and molecular evolution. The use of bone DNA typing in particular has already yielded useful insights into Polynesian prehistory as well as spectacular applications in the forensic identification of skeletal remains.
Dental microwear and dental function
Authors: Teaford Mark F. 
Published: June 2005

AbstractInvestigators have used many techniques to understand diet and tooth use in prehistoric species. A promising new addition to the analytical arsenal is dental microwear analysis—the study of microscopic wear patterns on teeth. On‐going work is proceeding on a number of fronts. Studies of modern animals are showing some of the limits of resolution of the technique, while studies of prehistoric animals are answering many new questions and raising still more in the process. Much work remains to be done, but one thing is clear: if we proceed cautiously, we can provide new insights into the evolution of diet and tooth use.
The earliest primates
Authors: Rose Kenneth D. 
Published: June 2005

AbstractRemarkable new fossil discoveries and intensive study of fossil evidence has led, during the past decade, and particularly the last few years, to exceptional advances and modifications in our understanding of early primate evolution. New insights have also come from research on extant primates, especially detailed anatomical, functional, and molecular studies. This review, however, focuses on the paleontological evidence. New fossils are spawning novel, sometimes controversial ideas about the relationships within and among primates and their allies—a situation that has caused temporary instability, but should eventually lead to elucidation, if not resolution, of outstanding problems.
The road less traveled: Phylogenetic perspectives in primatology
Authors: Rendall Drew , di Fiore Anthony 
Published: June 2005

AbstractInterest in phylogeny is increasing in many areas of evolutionary biology. One area of evolutionary anthropology that has not yet fully embraced this growth in phylogenetic thinking, however, is the study of primate behavior and ecology.1The predominant framework for behavioral studies of primates over the last three decades has been socioecological. The goals have been to identify broad correlations between species' behaviors and current environmental conditions. As such, the socioecological approach has been largely nonhistorical, taking little account of phylogeny. In contrast, phylogenetic approaches view the behavior of contemporary taxa within an explicitly historical framework. Although socioecology has proven extremely productive, there are many reasons to think that research in primatology could be profitably supplemented by a phylogenetic perspective.2,3
Primate seed dispersal: Coevolution and conservation implications
Authors: Chapman Colin A. 
Published: June 2005

AbstractEarly studies of primates have demonstrated that many species rely heavily on fruit, and that primates constitute a large component of the frugivore biomass in tropical forests. Consequently, primates have long been thought to be important seed dispersers. It is only recently that studies have been conducted that have illustrated the complex nature of the interactions between fruit‐eating primates and their food trees. Such studies have raised questions as to the causes and conse‐quences of the intriguing differences between primate communities, the importance of other animals in the interactions (such as dung beetles and rodents that secon‐darily disperse seeds), how primate‐plant interactions evolve, and the significance of primates in forest regeneration and conservation. Since subsistence and com‐mercial hunting of primates has heavily impacted frugivore communities, but left the physical structure of the forest relatively unaltered, studies of primate seed dispersal have important implications for the future of forests where seed dispersers have declined or disappeared.
Bipedalism and human birth: The obstetrical dilemma revisited
Authors: Rosenberg Karen , Trevathan Wenda 
Published: June 2005

Abstract…adaptation to bipedal locomotion decreased the size of the bony birth‐canal at the same time that the exigencies of tool use selected for larger brains. This obstetrical dilemma was solved by delivery of the fetus at a much earlier stage of development. (Washburn1)…there can be no doubt that many of the obstetrical problems of Mrs. H. Sapiens are due to the combination of a narrower pelvis and a bigger head in the species. (Krogman2)
New developments in Pleistocene art
Authors: Bahn Paul G. 
Published: June 2005

AbstractResearch on Pleistocene art is a dynamic and thriving area. Many new advances and discoveries have been made since the last major review of this topic.1 Indeed, thanks to the introduction of direct dating and detailed analysis of pigments, the last few years can arguably be described as the most exciting and most important phase in Ice Age art studies since such art was first discovered and validated.
Genetic epidemiology of breast cancer: Segregation analysis of 200 Danish pedigrees
Authors: Williams Wick R. , Anderson David E. , Rao D. C. 
Published: June 2005

AbstractAn investigation of the genetic epidemiology of breast cancer involving complex segregation analysis of 200 breast cancer pedigrees of Danish extraction is presented. The observed distribution of breast cancer is compatible with transmission of an autosomal‐dominant gene with no evidence for residual family resemblance. The gene frequency of the abnormal allele is 0.00756, and the displacement between the homozygous genotype means is 1.695. The gene frequency accounts for a significant proportion of breast cancer in young women, whereas by an advanced age a majority (87%) of affected women are phenocopies. Genetic modeling of other breast cancer families and results of linkage studies are reviewed.
A general autosomal/X‐linked model
Authors: Hasstedt Sandra J. , Skolnick Mark , Rao D. C. 
Published: June 2005

AbstractThis paper describes a general genetic model which encompasses both autosomal and X‐linked inheritance as submodels. It allows one to test for X‐linked inheritance of a trait by comparing the likelihood of X‐linked inheritance to the likelihood of the general genetic model. The general model is formulated as two loci, the first representing the trait locus and the second representing the sex chromosomes. The test for X‐linked inheritance is a test of linkage between the two loci. Three data sets were analyzed using this approach. Each was also analyzed using a variant of a model introduced by Demenais and Elston [1981], which treats the transmission probabilities as estimable parameters. Similar conclusions were reached using either model.
Genetic covariation between neuroticism and the symptoms of anxiety and depression
Authors: Jardine R. , Martin N. G. , Henderson A. S. , Rao D. C. 
Published: June 2005

AbstractA genetic analysis of the trait of neuroticism and symptoms of anxiety and depression in 3,810 pairs of adult MZ and DZ twins is reported. Differences between people in these measures can be explained simply by differences in their genes and in their individual environmental experiences. There is no evidence that environmental experiences that are shared by cotwins, such as common family environment or social influences, are important. There are differences between the sexes in gene action affecting neuroticism, and genetic effects become more pronounced with age in females. The lack of evidence for dominance variance affecting neuroticism contrasts well with the detection of considerable genetical nonadditivity for extraversion in the same sample and reinforces the view that these two traits are not only statistically, but also genetically, quite independent.An analysis of the causes of covariation between anxiety, depression, and neuroticism shows that additive gene effects are more important causes of covariation than environmental factors. Genetic variation in symptoms of anxiety and depression is largely dependent on the same factors as effect the neuroticism trait. However, there is also evidence for genetic variation specific to depression.
Genetic analysis workshop II: Results of incorporating a linkage disequilibrium parameter
Authors: Goldgar David E. , Fain Pamela R. 
Published: June 2005

AbstractThe incorporation of a linkage disequilibrium parameter, Δ, into linkage analysis is illustrated for data from Genetic Analysis Workshop II. Points from a joint likelihood surface are calculated and displayed on a recombination fraction‐linkage disequilibrium grid using a simple modification of LIPED. The approach is shown to increase the power of linkage analysis and the power of tests for heterogeneity of linkage for the simulated examples.
Genetic analysis workshop II: Further consideration of segregation and linkage analyses in problem 3
Authors: Kramer P. L. , Altmann D. B. , Kidd K. K. 
Published: June 2005

AbstractWe analyzed disease‐marker associations in Problem 3 for the Genetic Analysis Workshop II, using PAP for segregation analysis and LIPED for linkage analysis. In this report we present aspects of our analyses that are not reported in the summary [MacCluer et al, 1984]. Certain features that we added to the running of LIPED to facilitate the analyses are discussed. Furthermore, we tested for Mendelian transmission in the hypothetical trait locus and we calculated modified relative risks for marker‐trait genotypes. Some of the problems involved in analyzing complex associations among loci are discussed.
The genetic susceptibility to insulin‐dependent diabetes mellitus: Combined segregation and linkage analysis
Authors: Green A. , Svejgaard A. , Platz P. , Ryder L. P. , Jakobsen B. K. , Morton N. E. , Maclean C. J. , Rao D. C. 
Published: June 2005

AbstractWe report a combined segregation and linkage analysis of a Danish sample of 216 insulin‐dependent diabetes mellitus (IDDM) nuclear families: of these 216, twenty multiplex families were haplotyped regarding HLA‐DR and ‐B markers. The analysis was conducted using the computer program COMBIN, which includes a modifier to absorb family resemblance that is additional to the effect of the major locus that is assumed linked to a marker locus, eg, within the HLA region. The initial analysis could clearly reject a dominant major locus but could not discriminate between other models with or without modifier. However, after adding supplementary information on population associations between HLA and IDDM together with the identity‐by‐descent (IBD) distribution to the analysis, a final model was identified. This invokes an additive major locus, linked to HLA with recombination not significantly different from 0, a disease gene frequency of 0.217, plus a dominant modifier. From this model it can be predicted that about 0.15% of the general population is at 100% risk of IDDM, about 5% is at intermediate risk (approximately 10%), while the remaining population has a risk of 0. The model predicts recurrence risks compatible with empirically estimated values. Particularly strong, positive haplotype associations were found for the DR3,B8, DR3,B18, and DR4,B15 haplotypes, but detailed analyses showed that neither these particular haplotypes nor the DR3 and DR4 haplotypes in general could entirely explain the HLA‐associated susceptibility. The DR2 haplotypes showed a strong negative association. The results are discusssed in the light of available data on the epidemiology of IDDM in order to provide a framework for further epidemiological studies.
HLA antigens and acute rheumatic fever: Evidence for a recessive susceptibility gene linked to HLA
Authors: Hafez M. , Chakravarti A. , El‐Shennawy F. , El‐Morsi Z. , El‐Sallab S. H. , Al‐Tonbar Y. , Rao D. C. 
Published: June 2005

AbstractFrom 60 probands with acute rheumatic fever (ARF), 19 multiplex families segregating for ARF were ascertained. The parents and rheumatic and normal sibs of the probands in these 19 families were also studied. HLA typing using the microlymphocytotoxic assay was then performed on the 60 unrelated probands, the multiplex families, and 234 unrelated controls using 23 antigens from the HLA‐A and ‐B loci. The controls lacked a past history of ARF and were from the same geographic locality. Calculations of relative risk demonstrate an increase of HLA‐B5 antigen in the 60 patients, but the result might not be significant from the point of view of multiple comparisons. Nevertheless, affected sib pairs from the multiplex families show 93% concordance for both or one HLA haplotype. A formal linkage analysis demonstrates that a recessive etiology is most likely (lod score of 3.3) with approximately 68% of cases being due to a gene closely linked to HLA and in linkage disequilibrium with HLA‐B5. The remaining 32% of cases are due to other familial factors such as polygenic inheritance or common environmental factors. The results confirm a strong genetic predisposition to ARF and its heterogeneous nature in families.
A multivariate analysis of familial associations of lipoprotein levels in the Lipid Research Clinics Collaborative Family Study: I. Familial correlation and regression analyses
Authors: Heuch Ivar , Namboodiri Kadambari K. , Green Philip P. , Kaplan Ellen B. , Laskarzewski Peter , Glueck Charles J. , Elston Robert C. , Rifkind Basil M. , Rao D. C. 
Published: June 2005

AbstractIn view of the complex, intraindividual relationships among different lipoprotein levels (LDL‐C, HDL‐C, and VLDL‐C), multivariate methods aimed at assessing joint familial associations and their possible determinants were performed in the white, random sample component of the Collaborative Lipid Research Clinics Family Study data (1,336 families with 5,097 subjects). After appropriate transformations and covariate adjustments of the data, several kinds of correlation and regression analyses were performed, taking into consideration variable family size and possible age and clinic differences. The association patterns across clinics and age strata were found to be homogeneous for the vast majority of comparisons. The results of multivariate analyses (especially the significant association of each lipoprotein among biological relatives), the persistence of parental levels as the best predictors for the same lipoprotein levels among the offspring, and the essentially unchanged partial correlation estimates as compared to ordinary correlations suggest strong influence of factors specific to each lipoprotein in the familial associations. But the highly significant intraindividual correlations and the nonnegligible cross‐correlations among relatives also suggest the additional presence of common underlying factors for the familial associations, especially between HDL‐C and VLDL‐C and to a lesser extent between LDL‐C and VLDL‐C. The issues stemming from these analyses and the directions for further analyses are discussed.
The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability
Authors: Chakraborty Ranajit , Rao D. C. 
Published: June 2005

AbstractThe inheritance of pyloric stenosis is explained by a multifactorial threshold model with an underlying assumption that the liability for the disease is distributed in males and females showing a sex dimorphism. From the available data on familial occurrences of pyloric stenosis, it is shown, that an extra maternal effect is not required to explain the familial risk of pyloric stenosis, as opposed to the earlier literature. Explicit expressions for familial risks of a discontinuous trait exhibiting dimorphism of liability are presented, based on a model originally proposed by Rice et al [1981], which do not require the approximation of univariate normality of a conditional bivariate normal distribution.
Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis
Authors: Lathrop G. M. , Lalouel J. M. , White R. L. , Rao D. C. 
Published: June 2005

AbstractMethods are given for efficient calculation of the likelihood for multilocus linkage in families comprised of grandparents, parents, and children. Such families are being used in large‐scale cooperative efforts to build a detailed linkage map of the human genome. The methods are illustrated by an application to loci on chromosome 13.
Family history of cancer related to cholesterol level in young adults
Authors: Reed Terry , Wagener Diane K. , Donahue Richard P. , Kuller Lewis H. , Rao D. C. 
Published: June 2005

AbstractCancer family history was quantified in 229 subjects (122 female, 107 male) screened for total serum cholesterol as seventh graders in 1972–1973 and repeated nine years later as young adults. Division of the subjects on the basis of cholesterol quintile resulted in significantly lower cancer family history scores in participants with persistently low total serum cholesterol levels and a significant excess of cancer mortality in parents and grandparents of young adult males with highdensity lipoprotein (HDL) levels in the upper quintile. A trend toward increased cancer in families of young adults who were smokers was independent of the cholesterol levels. It is suggested that such a quantification of family history score will be more useful than simply designating the family history as positive or negative in future modeling schemes for predicting risk.
Testing for developmental changes in gene expression on resemblance for quantitative traits in kinships of twins: Application to height, weight, and blood pressure
Authors: Corey L. A. , Eaves L. J. , Mellen B. G. , Nance W. E. , Rao D. C. 
Published: June 2005

AbstractHeight, weight, and blood pressure measurements on identical and fraternal twins and their families were analyzed to assess the degree to which genetic effects may change with age. The blood pressure data were based on the total sample of 1,767 individuals, while height and weight were available on 1,640 individuals in 204 monozygotic twin kinships. The results of testing alternative hypotheses about developmental changes in gene expression indicate that different mechanisms may be operative for these traits. While there was no evidence that developmental effects are a significant source of the observed variation in systolic or diastolic blood pressure, there was strong evidence that genetically determined developmental changes are an important factor in the determination of body weight. Agerelated changes in weight appeared to be best explained by the cumulative developmental effects of a single set of genes, rather than by the expression of new genes at different stages of development.
Heterogeneity in multifactorial inheritance of plasma lipids and lipoproteins in ethnically diverse families in Jerusalem
Authors: Friedlander Y. , Kark J. D. , Stein Y. , Rao D. C. 
Published: June 2005

AbstractGenetic and cultural determinants of total cholesterol (TC), triglyceride (TG), low‐ and high‐density lipoprotein cholesterol (LDL‐C, HDL‐C), and HDL‐C/TC were estimated utilizing a path model in a random sample of nearly 4,000 families examined in the Jerusalem Lipid Research Clinic. The analyses were done separately in each of the ethnic groups categorized according to the parents' country of birth (Europe, Asia, North Africa, and Israel/mixed origin) in order to identify the nature and sources of any heterogeneity among the the groups. Both genetic (h2) and cultural (c2) components of inheritance were significant for all lipid variables in each of the ethnic groups. Under the most parsimonious model, estimates of h2 in the ethnic groups were .40–.55, .40–.51, .45–.50, .41–.48, and .42–.78 for TC, LDL‐C, HDL‐C, HDL‐C/TC, and TG, respectively. The c2 ranged from 3% to 5% for TC and LDL‐C and from 4% to 10% for HDL‐C, HDL‐C/TC, and TG. The major parameters of the path model were generally homogeneous across the origin groups. The h2 appeared to be higher in the Asian and c2 was slightly greater in the European group. The stronger sibling environmental effect in the Asia group, the somewhat lower transmission of environment in the North African group, and the lower correlation between spouse environments in the North African group were the major sources of the origin heterogeneity. Within this population, genetic factors appear to be the major determinants of lipid variations, suggesting relative homogeneity of the distribution of environmental determinants of plasma lipids.
Cleft lip with or without cleft palate: Reanalysis of a three‐generation family study from England
Authors: Marazita Mary L. , Goldstein Alisa M. , Smalley Susan L. , Spence M. Anne , Rao D. C. 
Published: June 2005

AbstractThe study population consists of 424 three‐generation families originally ascertained through nonsyndromic cleft lip with or without cleft palate (CL ± P) surgical probands by Carter et al [J Med Genet 19:246–261, 1982] in London, England. Carter et al proposed that the multifactorial threshold model (MF/T) could explain the data. The goal of our study was to test that hypothesis, plus alternatives, rigorously.Two approaches were used: 1) Carter et al had proposed that these data were consistent with the predictions of the MF/T as presented by Carter [Br Med Bull 25:52–57. 1969]. However, we tested those predictions using standard χ2 tests and found statistically significant departures from the predictions in these families. 2) Complex segregation analysis under the mixed model was performed. Again, the MF/T model could be rejected, as could a model of a major locus alone. The best‐fitting model included both major locus and multifactorial components. When the data were analyzed in two parts based on the proband's phenotype (CL vs CL + P) there was some evidence of heterogeneity in that there was a significant proportion of sporadic cases in the families of CL probands but not in the families of CL + P probands.Our results provide no support for the MF/T model. The results from segregation analyses of CL ± P in these families were most consistent with autosomal major gene inheritance plus multifactorial contributions.
The recurrence risks for isolated cases with incompletely penetrant X‐linked conditions
Authors: Rogatko A. , Rao D. C. 
Published: June 2005

AbstractThe recurrence risks for an X‐linked disease with incomplete penetrance are evaluated for a sib given that an isolated proband (male or female) is affected. The derived formulae are applied to the X‐linked form of Alport and fragile X syndromes.
Analysis of the distribution of erythrocyte sodium lithium countertransport in a sample representative of the general population
Authors: Boerwinkle Eric , Turner Stephen T. , Weinshilboum Richard , Johnson Mark , Richelson Elliott , Sing Charles F. , Rao D. C. 
Published: June 2005

AbstractNumerous studies of sodium‐lithium countertransport (Na‐Li CNT) have reported higher rates in essential hypertensives versus normotensive controls. We studied the distribution and the mode of inheritance of Na‐Li CNT using a sample of 238 unrelated individuals and a sample of 245 individuals in 50 pedigrees all sampled from the population at large. The distribution of Na‐Li CNT is continuous and bimodal. Our results indicate that there is a large genetic contribution to the distribution of Na‐Li CNT. The hypothesis that the effect that causes bimodality is transmitted from generation to generation is supported by the fit to these data of a restricted transmission model with τ2 = 0.749. We hypothesize that this deviation of τ2 from its Mendelian expectation may be attributable to heterogeneity in the etiology of the bimodality in the Na‐Li CNT distribution in the population at large.