The SRY-1532 Site of the human Y chromosome is subject to recurrent single nucleotide mutations

Abstract

Haplotype determination based on three Y-linked polymorphic sites, 92R7 (C/T), SRY-1532 (A/G), and YAP (−/+), in 127 males belonging to three caste Hindu populations of South India (Vizag Brahmins, Peruru Brahmins, and Kammas) and 13 males belonging to a migrant group (the Siddis) showed the existence of all four haplotypes (CA, CG, TG, and TA-) under the YAP- background. This finding suggests that the reverse mutation (G--A) at the SRY-1532 site, described earlier in the literature, is present in South Indian populations as well. The YAP+ mutation was seen in only five Siddi individuals. Four of these were of the CG+ haplotype structure, but a novel haplotype (CA+) was found in one male. To explain the occurrence of the six haplotypes found within these three sites, a haplotype tree is constructed that introduces a new reverse mutation at the SRY-1532 site (G--A), occurring under the CG+ background after the migrant Siddi population arrived in India.