Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome.

ABSTRACT:

Background

Large palindromes (inverted repeats) make up substantial proportions of mammalian sex chromosomes, often contain genes, and have high rates of structural variation arising via ectopic recombination. As a result, they underlie many genomic disorders. Maintenance of the palindromic structure by gene conversion between the arms has been documented, but over longer time periods, palindromes are remarkably labile. Mechanisms of origin and loss of palindromes have, however, received little attention.

Results

Here, we use fiber-FISH, 10x Genomics Linked-Read sequencing, and breakpoint PCR sequencing to characterize the structural variation of the P8 palindrome on the human Y chromosome, which contains two copies of the VCY (Variable Charge Y) gene. We find a deletion of

SUBMITTER: Shi W 

PROVIDER: S-EPMC6790999 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature