High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups.

ABSTRACT: Because of its highly repetitive nature, the human male-specific Y chromosome remains understudied. It is important to investigate variation on the Y chromosome to understand its evolution and contribution to phenotypic variation, including infertility. Approximately 20% of the human Y chromosome consists of ampliconic regions which include nine multi-copy gene families. These gene families are expressed exclusively in testes and usually implicated in spermatogenesis. Here, to gain a better understanding of the role of the Y chromosome in human evolution and in determining sexually dimorphic traits, we studied ampliconic gene copy number variation in 100 males representing ten major Y haplogroups world-wide. Copy number was estimated with droplet digital PCR. In contrast to low nucleotide

SUBMITTER: Ye D 

PROVIDER: S-EPMC6007357 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature