Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

ABSTRACT: The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date¹ and led to its systematic omission from genomic analyses. Here we present de novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution and report considerable diversity in size and structure. Half of the male-specific euchromatic region is subject to large inversions with a greater than twofold higher recurrence rate compared with all other chromosomes². Ampliconic sequences associated with these inversions show differing mutation rates that are sequence context dependent, and some ampliconic genes exhibit evidence for concerted evolution with the acquisition and purging of lineage-specific pseudogenes. The largest heterochromati

SUBMITTER: Hallast P 

PROVIDER: S-EPMC10726138 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature