Refining the genetic portrait of Portuguese Roma through X-chromosomal markers
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Refining the genetic portrait of Portuguese Roma through X-chromosomal markers. / Pereira, Vania; Gusmão, Leonor; Valente, Cristina; Pereira, Rui; Carneiro, João; Gomes, Iva; Morling, Niels; Amorim, António; João Prata, Maria.
I: American Journal of Physical Anthropology, Bind 148, Nr. 3, 07.2012, s. 389-94.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Refining the genetic portrait of Portuguese Roma through X-chromosomal markers
AU - Pereira, Vania
AU - Gusmão, Leonor
AU - Valente, Cristina
AU - Pereira, Rui
AU - Carneiro, João
AU - Gomes, Iva
AU - Morling, Niels
AU - Amorim, António
AU - João Prata, Maria
N1 - Copyright © 2012 Wiley Periodicals, Inc.
PY - 2012/7
Y1 - 2012/7
N2 - Due to differences in transmission between X-chromosomal and autosomal DNA, the comparison of data derived from both markers allows deeper insight into the forces that shape the patterns of genetic diversity in populations. In this study, we applied this comparative approach to a sample of Portuguese Roma (Gypsies) by analyzing 43 X-chromosomal markers and 53 autosomal markers. Portuguese individuals of non-Gypsy ancestry were also studied. Compared with the host population, reduced levels of diversity on the X chromosome and autosomes were detected in Gypsies; this result was in line with known patterns of genetic diversity typical of Roma groups. As a consequence of the complex demographic past of the Roma, during which admixture and genetic drift played major roles, the amount of linkage disequilibrium (LD) on the X chromosome in Gypsies was considerably higher than that observed in non-Gypsies. When the pattern of differentiation on the X chromosome was compared with that of autosomes, there was evidence for asymmetries in female and male effective population sizes during the admixture between Roma and non-Roma. This result supplements previous data provided by mtDNA and the Y chromosome, underlining the importance of using combined information from the X chromosome and autosomes to dissect patterns of genetic diversity. Following the out-of-India dispersion, the Roma acquired a complex genetic pattern that was influenced by drift and introgression with surrounding populations, with important contributions from both males and females. We provide evidence that a sex-biased admixture with Europeans is probably associated with the founding of the Portuguese Gypsies.
AB - Due to differences in transmission between X-chromosomal and autosomal DNA, the comparison of data derived from both markers allows deeper insight into the forces that shape the patterns of genetic diversity in populations. In this study, we applied this comparative approach to a sample of Portuguese Roma (Gypsies) by analyzing 43 X-chromosomal markers and 53 autosomal markers. Portuguese individuals of non-Gypsy ancestry were also studied. Compared with the host population, reduced levels of diversity on the X chromosome and autosomes were detected in Gypsies; this result was in line with known patterns of genetic diversity typical of Roma groups. As a consequence of the complex demographic past of the Roma, during which admixture and genetic drift played major roles, the amount of linkage disequilibrium (LD) on the X chromosome in Gypsies was considerably higher than that observed in non-Gypsies. When the pattern of differentiation on the X chromosome was compared with that of autosomes, there was evidence for asymmetries in female and male effective population sizes during the admixture between Roma and non-Roma. This result supplements previous data provided by mtDNA and the Y chromosome, underlining the importance of using combined information from the X chromosome and autosomes to dissect patterns of genetic diversity. Following the out-of-India dispersion, the Roma acquired a complex genetic pattern that was influenced by drift and introgression with surrounding populations, with important contributions from both males and females. We provide evidence that a sex-biased admixture with Europeans is probably associated with the founding of the Portuguese Gypsies.
KW - Chromosomes, Human, X
KW - Genetic Markers
KW - Genetic Variation
KW - Gypsies
KW - Humans
KW - INDEL Mutation
KW - Linkage Disequilibrium
KW - Male
KW - Microsatellite Repeats
KW - Portugal
U2 - 10.1002/ajpa.22061
DO - 10.1002/ajpa.22061
M3 - Journal article
C2 - 22576185
VL - 148
SP - 389
EP - 394
JO - American Journal of Physical Anthropology
JF - American Journal of Physical Anthropology
SN - 0002-9483
IS - 3
ER -
ID: 46232513