Crawford, M. H.; Mitchell, R. John
doi: 10.1002/(SICI)1096-8644(199710)104:2<155::AID-AJPA1>3.0.CO;2-Ypmid: 9446485
Soodyall, Himla; Jenkins, Trefor; Mukherjee, Arindam; Du Toit, Ernette; Roberts, Derek F.; Stoneking, Mark
doi: 10.1002/(SICI)1096-8644(199710)104:2<157::AID-AJPA2>3.0.CO;2-Wpmid: 9386823
Genealogical histories show that the inhabitants of Tristan da Cunha are derived from a known number of founders. Using the transmission of mitochondrial DNA (mtDNA) from mother to offspring pairs, we traced the mtDNA types found in 161 extant individuals to five female founders. Although the historical data claimed that two pairs of sisters were among the founding females, mtDNA data showed support for only one pair of sisters. We also studied the fidelity of mtDNA transmission in conjunction with the genealogical data. We did not detect any mutations from 698 base pairs of sequence data from 75 individuals, which together accounted for 108 independent transmissions of mtDNA from mother to offspring. Based on this observation, we estimate that the mtDNA mutation rate is no more than one new mutation every 36 transmissions. These results indicate a high fidelity of maternal mtDNA transmission and support the utility of mtDNA in evolutionary and forensic studies. Am J Phys Anthropol 104:157–166, 1997. © 1997 Wiley‐Liss, Inc.
doi: 10.1002/(SICI)1096-8644(199710)104:2<167::AID-AJPA3>3.0.CO;2-Wpmid: 9386824
Variation on the Y chromosome may permit our understanding the evolution of the human paternal lineage and male gene flow. This study reports upon the distribution and non random association of alleles at four Y‐chromosome specific loci in four populations, three Caucasoid (Italian, Greek and Slav) and one Asian. The markers include insertion/deletion (p12f), point mutation (92R7 and pYαI), and repeat sequence (p21A1) polymorphisms. Our data confirm that the p12f/TaqI 8 kb allele is a Caucasoid marker and that Asians are monomorphic at three of the loci (p12f, 92R7, and pYαI). The alleles at 92R7 and pYαI were found to be in complete disequilibrium in Europeans. Y‐haplotype diversity was highly significant between Asians and all three European groups (P < 0.001), but the Greeks and Italians were also significantly different with respect to some alleles and haplotypes (P < 0.02). We find strong evidence that the p12f/TaqI 8 kb allele may have arisen only once, as a deletion event, and, additionally, that the present‐day frequency distribution of Y chromosomes carrying the p12f/8 kb allele suggests that it may have been spread by colonising sea‐faring peoples from the Near East, possibly the Phoenicians, rather than by expansion of Neolithic farmers into continental Europe. The p12f deletion is the key marker of a unique Y chromosome, found only in Caucasians to date, labelled ‘Mediterranean’ and this further increases the level of Y‐chromosome diversity seen among Caucasoids when compared to the other major population groups. Am J Phys Anthropol 104:167–176, 1997. © 1997 Wiley‐Liss, Inc.
Crawford, M. H.; Williams, J. T.; Duggirala, R.
doi: 10.1002/(SICI)1096-8644(199710)104:2<177::AID-AJPA4>3.0.CO;2-Wpmid: 9386825
This study explores the genetic structure of Siberian indigenous populations on the basis of standard blood group and protein markers and DNA variable number of tandem repeats (VNTR) variation. Four analytical methods were utilized in this study: Harpending and Jenkin's R‐matrix; Harpending and Ward's method of correlating genetic heterozygosity (H) to the distance from the centroid of the gene frequency array (rii); spatial autocorrelation, and Mantel tests. Because of the underlying assumptions of the various methods, the numbers of populations used in the analyses varied from 15 to 62. Since spatial autocorrelation is based upon separate correlations between alleles, a larger number of standard blood markers and populations were used. Fewest Siberian populations have been sampled for VNTRs, thus, only a limited comparison was possible. The four analytical procedures employed in this study yielded complementary results suggestive of the effects of unique historical events, evolutionary forces, and geography on the distribution of alleles in Siberian indigenous populations. The principal components analysis of the R‐matrix demonstrated the presence of populational clusters that reflect their phylogenetic relationship. Mantel comparisons of matrices indicate that an intimate relationship exists between geography, languages, and genetics of Siberian populations. Spatial autocorrelation patterns reflect the isolation‐by‐distance model of Malecot and the possible effects of long‐distance migration. Am J Phys Anthropol 104:177–192, 1997. © 1997 Wiley‐Liss, Inc.
Bonné‐Tamir, B.; Nystuen, A.; Seroussi, E.; Kalinsky, H.; Kwitek‐Black, A. E.; Korostishevsky, M.; Adato, A.; Sheffield, V. C.
doi: 10.1002/(SICI)1096-8644(199710)104:2<193::AID-AJPA5>3.0.CO;2-#pmid: 9386826
Bindon, James R.; Baker, Paul T.
doi: 10.1002/(SICI)1096-8644(199710)104:2<201::AID-AJPA6>3.0.CO;2-0pmid: 9386827
One of Roberts' key contributions was his work demonstrating the applicability of several ecological rules to human populations (Roberts [1953] Am. J. Phys. Anthropol. 11:533–558; [1978] Climate and Human Variability, 2nd ed., Menlo Park, CA: Cummings). His finding that average body weight systematically covaries with mean annual temperature was widely taken as confirmation of Bergmann's rule for humans. More recently his findings on weight and temperature have been extended and confirmed (Ruff [1994] Yrbk. Phys. Anthropol. 37:65–407; Katzmarzyk and Leonard [1995] Hum Biol Council Program Abstracts 132) although the strength of the association may be decreasing when considering more recent surveys (Katzmarzyk and Leonard [1995]). Roberts noted in 1953 that Oceanic populations may be somewhat of an exception to Bergmann's rule, and we propose that Neel's ([1962] Am. J. Hum. Genet. 14:353–362) thrifty genotype model may account for some of the deviation from predicted weights among these populations.
Hershkovitz, Israel; Rothschild, Bruce M.; Latimer, Bruce; Dutour, Olivier; Léonetti, Georges; Greenwald, Charles M.; Rothschild, Christine; Jellema, Lyman M.
doi: 10.1002/(SICI)1096-8644(199710)104:2<213::AID-AJPA8>3.0.CO;2-Zpmid: 9386828
doi: 10.1002/(SICI)1096-8644(199710)104:2<227::AID-AJPA9>3.0.CO;2-Vpmid: 9386829
Metric characteristics of the mandibles of modern and various historical populations from the Kanto region (east‐central Japan) were compared with those of their possible ancestral populations, i.e., the Jomon population from Kanto and the Yayoi population from northern Kyushu and Yamaguchi (western Japan). The Jomon people were aboriginal Holocene inhabitants of Japan, while the Yayoi skeletal series are considered to largely represent immigrants from the Asian continent. Compared to the presumed ancestral morphology, the mandibles of the modern and pre‐modern peoples of Kanto showed a marked narrowing, as well as reduction in the regions of major masticatory muscle attachments. The main cause of this underdevelopment is likely to be a diminished chewing stress, resulting in insufficient stimulation for proper growth of the jaw bone. In contrast, symphyseal height increased compared to the earlier Kanto populations. This may be a reflection of the existence of significant Yayoi genetic contribution in the formation of the modern and pre‐modern Kanto populations. On the other hand, the mandibles of the protohistoric to medieval populations of the Kanto region are morphologically closer to Jomon. Therefore, they seem to have been genealogically continuous from the native Jomon people with some degree of gene flow stemming from the immigrants. Am J Phys Anthropol 104:227–243, 1997. © 1997 Wiley‐Liss, Inc.
doi: 10.1002/(SICI)1096-8644(199710)104:2<245::AID-AJPA10>3.0.CO;2-#pmid: 9386830
The low brachial and crural indices of the European Neandertals have long been considered indicative of cold adaptation. Recent work has documented lower limb/trunk ratios and deeper chests (anterior‐posterior diameter) in European Neandertals than among their successors. The present study uses variables reflective of limb length, body mass and trunk height, and compares European Neandertals to 15 globally diverse recent human samples (1 “Eskimo,” 3 North African, 4 sub‐Saharan African and 7 European). Bivariate plots, as well as principal components analysis plots of log shape‐transformed data, indicate that European Neandertals had an overall body shape that falls at the extreme end of modern higher latitude groups' range of variation. Cluster analysis (minimum spanning tree on a principal coordinates plot) indicates that the Neandertals are closest in body shape to modern “Eskimos,” but even in this dendrogram, they are joined to the “Eskimo” via a long branch. In fact, it appears that European Neandertals were “hyperpolar” in body shape, likely due to two factors: 1) the extremely cold temperatures of glacial Europe and 2) less effective cultural buffering against cold stress. Am J Phys Anthropol 104:245–258, 1997. © 1997 Wiley‐Liss, Inc.
Showing 1 to 10 of 11 Articles
We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type 1 (USH1B) in a large Samaritan kindred. USH1B is an autosomal recessive disease characterized by profound congenital sensorineural deafness, vestibular dysfunction and progressive visual loss. A unique haplotype found only in all USH1B carriers and affected individuals implied that the disease‐causing mutation probably entered the community from a single founder. Screening for mutations in a gene called GARP, which was mapped to the same genetic interval as USH1B, revealed a base substitution in the coding region of the gene, in a homozygous state in all affected individuals. This base substitution, which results in an arginine to tryptophane change, is not found in control individuals and occurs at an amino acid residue that is conserved across species, including mouse, gorilla, chimpanzee and macaque. This study emphasizes the strength of using an isolated inbred population for efficient identification of the primary linkage and for narrowing the disease interval, but also demonstrates its limitations in distinguishing between mutations causing the disease and those representing unique and private polymorphisms. Am J Phys Anthropol 104:193–200, 1997. © 1997 Wiley‐Liss, Inc.
The present study discusses in detail the osteological changes associated with sickle cell anemia in children and their importance in differential diagnosis. Posterior calcaneal and specific articular surface disruptive metacarpal lesions are diagnostic for sickle cell anemia. Calvarial thickening, tibial and femoral cortical bone thickening, and bowing are of more limited utility in differential diagnosis. Granular osteoporosis, pelvic demineralization and rib broadening are nonspecific. Localized calvarial “ballooning,” previously not described, may have diagnostic significance. Bone marrow hyperplastic response (porotic hyperostosis) in sickle cell anemia produces minimal radiologic changes contrasted with that observed in thalassemia and blood loss/hemolytic phenomenon.