Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms
Name
Page_Intrachromosomal.pdf
Size
848.25 KB
Format
Adobe PDF
Checksum (MD5)
cddb8af2e5e0d6b0e607db64c81d3016
Author(s)
Noordam, Michiel J.
van Daalen, Saskia K. M.
Skaletsky, Helen
Clark, Brian A.
Macville, Merryn V.
Repping, Sjoerd
Lange, Julian
Page, David C
Date Issued
May 2013
Journal
Genomics
Publisher
Elsevier
Citation
Lange, Julian, Michiel J. Noordam, Saskia K. M. van Daalen, Helen Skaletsky, Brian A. Clark, Merryn V. Macville, David C. Page, and Sjoerd Repping. “Intrachromosomal Homologous Recombination Between Inverted Amplicons on Opposing Y-Chromosome Arms.” Genomics 102, no. 4 (October 2013): 257–264.
Version
Author's final manuscript
Abstract
Amplicons – large, nearly identical repeats in direct or inverted orientation – are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications, inversions, or isodicentric chromosomes have been reported only for amplicon pairs located exclusively on the short arm (Yp) or the long arm (Yq). Here we report our finding of four men with Y chromosomes that evidently formed by intrachromosomal NAHR between inverted repeat pairs comprising one amplicon on Yp and one amplicon on Yq. In two men with spermatogenic failure, sister-chromatid crossing-over resulted in pseudoisoYp chromosome formation and loss of distal Yq. In two men with normal spermatogenesis, intrachromatid crossing-over generated pericentric inversions. These findings highlight the recombinogenic nature of the MSY, as intrachromosomal NAHR occurs for nearly all Y-chromosome amplicon pairs, even those located on opposing chromosome arms.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Whitehead Institute for Biomedical Research
Terms of Use
Creative Commons Attribution-NonCommercial-NoDerivs License
Persistent DSpace Link
DOI of Published Version
https://doi.org/10.1016/j.ygeno.2013.04.018
