Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

被引:73
作者
Behar, DM
Garrigan, D
Kaplan, ME
Mobasher, Z
Rosengarten, D
Karafet, TM
Quintana-Murci, L
Ostrer, H
Skorecki, K
Hammer, MF
机构
[1] Technion & Rambam Med Ctr, Dept Nephrol & Mol Med, IL-31096 Haifa, Israel
[2] Technion & Rambam Med Ctr, Bruce Rappaport Fac Med, Haifa, Israel
[3] Technion & Rambam Med Ctr, Res Inst, Haifa, Israel
[4] Univ Arizona, Div Biotechnol, Tucson, AZ 85721 USA
[5] Inst Pasteur, CNRS, URA1961, Paris, France
[6] NYU, Sch Med, New York, NY 10016 USA
关键词
D O I
10.1007/s00439-003-1073-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The molecular basis of more than 25 genetic diseases has been described in Ashkenazi Jewish populations. Most of these diseases are characterized by one or two major founder mutations that are present in the Ashkenazi population at elevated frequencies. One explanation for this preponderance of recessive diseases is accentuated genetic drift resulting from a series of dispersals to and within Europe, endogamy, and/or recent rapid population growth. However, a clear picture of the manner in which neutral genetic variation has been affected by such a demographic history has not yet emerged. We have examined a set of 32 binary markers (single nucleotide polymorphisms; SNPs) and 10 microsatellites on the non-recombining portion of the Y chromosome (NRY) to investigate the ways in which patterns of variation differ between Ashkenazi Jewish and their non-Jewish host populations in Europe. This set of SNPs defines a total of 20 NRY haplogroups in these populations, at least four of which are likely to have been part of the ancestral Ashkenazi gene pool in the Near East, and at least three of which may have introgressed to some degree into Ashkenazi populations after their dispersal to Europe. It is striking that whereas Ashkenazi populations are genetically more diverse at both the SNP and STR level compared with their European non-Jewish counterparts, they have greatly reduced within-haplogroup STR variability, especially in those founder haplogroups that migrated from the Near East. This contrasting pattern of diversity in Ashkenazi populations is evidence for a reduction in male effective population size, possibly resulting from a series of founder events and high rates of endogamy within Europe. This reduced effective population size may explain the high incidence of founder disease mutations despite overall high levels of NRY diversity.
引用
收藏
页码:354 / 365
页数:12
相关论文
共 42 条
[11]  
EXCOFFIER L, 1992, GENETICS, V131, P479
[12]   Age estimates of two common mutations causing factor XI deficiency: Recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews [J].
Goldstein, DB ;
Reich, DE ;
Bradman, N ;
Usher, S ;
Seligsohn, U ;
Peretz, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :1071-1075
[13]  
Goodman R. M., 1979, GENETIC DISORDERS JE
[14]  
GOODMAN RM, 1979, GENETIC DISORDERS JE, P1
[15]   Origins and divergence of the Roma (Gypsies) [J].
Gresham, D ;
Morar, B ;
Underhill, PA ;
Passarino, G ;
Lin, AA ;
Wise, C ;
Angelicheva, D ;
Calafell, F ;
Oefner, PJ ;
Shen, PD ;
Tournev, I ;
de Pablo, R ;
Kucinskas, V ;
Perez-Lezaun, A ;
Marushiakova, E ;
Popov, V ;
Kalaydjieva, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1314-1331
[16]   Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes [J].
Hammer, MF ;
Redd, AJ ;
Wood, ET ;
Bonner, MR ;
Jarjanazi, H ;
Karafet, T ;
Santachiara-Benerecetti, S ;
Oppenheim, A ;
Jobling, MA ;
Jenkins, T ;
Ostrer, H ;
Bonné-Tamir, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (12) :6769-6774
[17]  
Hammer MF, 1997, GENETICS, V145, P787
[18]   Hierarchical patterns of global human Y-chromosome diversity [J].
Hammer, MF ;
Karafet, TM ;
Redd, AJ ;
Jarjanazi, H ;
Santachiara-Benerecetti, S ;
Soodyall, H ;
Zegura, SL .
MOLECULAR BIOLOGY AND EVOLUTION, 2001, 18 (07) :1189-1203
[19]   The human Y chromosome haplogroup tree: Nomenclature and phylogeography of its major divisions [J].
Hammer, MF ;
Zegura, SL .
ANNUAL REVIEW OF ANTHROPOLOGY, 2002, 31 :303-321
[20]  
Hedrick P.W., 2000, GENETICS POPULATIONS