Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes.

ABSTRACT: The Y chromosome harbors nine multi-copy ampliconic gene families expressed exclusively in testis. The gene copies within each family are >99% identical to each other, which poses a major challenge in evaluating their copy number. Recent studies demonstrated high variation in Y ampliconic gene copy number among humans. However, how this variation affects expression levels in human testis remains understudied. Here we developed a novel computational tool Ampliconic Copy Number Estimator (AmpliCoNE) that utilizes read sequencing depth information to estimate Y ampliconic gene copy number per family. We applied this tool to whole-genome sequencing data of 149 men with matched testis expression data whose samples are part of the Genotype-Tissue Expression (GTEx) project. We found that the Y am

SUBMITTER: Vegesna R 

PROVIDER: S-EPMC6772104 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature