title: Origin of Amerindian Y-chromosomes as inferred by the analysis of six polymorphic markers.
abstract: We analysed the frequency of six Y-specific polymorphisms in 105 Amerindian males from seven different populations, 42 Caucasian males, and a small number of males of African, Chinese, and Melanesian origin. The combination of three of the six polymorphisms studied produced four different Y-haplogroups. The haplogroups A (non-variant) was the most frequent one. Eighty-five percent of Amerindians showing haplogroup A have the alphoid II (alpha hII) and the DYS19A Y-specific markers, an association that is found only in 10% of Caucasians and that has not been detected in Asiatics and Africans. Haplogroups C (YAP+) and D (YAP+ plus an A-->G transmission in the locus DYS271) are of African origin. Four percent of Amerindians and approximately 12% of Caucasians showed haplogroup C; approximately 1% of Amerindians and approximately 2% of Caucasians had haplogroup D. Haplogroup B is characterized by a C-->T transition in nucleotide position 373 of the SRY gene domain; this haplogroup is found in Caucasians (approximately 12%) and Amerindians (approximately 4%). None of the Amerindians exhibiting the haplogroups B, C, or D show the haplotype alpha hII/DYS19A. By haplotyping the the Alu insert and the DNA region surrounding the insert in YAP+ individuals, we could demonstrate that Amerindian Y chromosomes bearing African markers (haplogroups C and D) are due to recent genetic admixture. Most non-alpha hII/DYS19A Amerindian Y-chromosomes in haplogroup A and most cases in haplogroup B are also due to gene flow. We show that haplotype alpha hII/DYS19A is in linkage disequilibrium with a C-->T transition in the locus DYS19A. Our results suggest that most Amerindian Y-chromosomes derive from a single paternal lineage characterized by the alpha hII/DYS19A/DYS199T Amerindian-specific haplotype. The analysis of a larger sample of native American Y-chromosome will be required in order to confirm or correct this hypothesis.
authors.affiliation: IMBICE, Argentina.
authors.forename: N O
authors.initials: NO
authors.lastname: Bianchi
authors.forename: G
authors.initials: G
authors.lastname: Bailliet
authors.forename: C M
authors.initials: CM
authors.lastname: Bravi
authors.forename: R F
authors.initials: RF
authors.lastname: Carnese
authors.forename: F
authors.initials: F
authors.lastname: Rothhammer
authors.forename: V L
authors.initials: VL
authors.lastname: Martínez-Marignac
authors.forename: S D
authors.initials: SD
authors.lastname: Pena
mesh_terms: D044466:Asian People; D044383:Black People; D004247:DNA / Q000032:analysis / Q000737:chemistry / Q000235:genetics; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044465:White People; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA