Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/32314
Title: Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats.
Authors: Balaresque, Patricia
King, Turi E.
Parkin, Emma J.
Heyer, E.
Carvalho-Silva, D.
Kraaijenbrink, T.
de Knijff, P.
Tyler-Smith, C.
Jobling, Mark A.
First Published: 7-Mar-2014
Publisher: Wiley for Human Genome Variation Society, Wiley-Liss
Citation: Human Mutation, 2014, 35 (5), pp. 609-617
Abstract: The male-specific region of the human Y chromosome (MSY) contains eight large inverted repeats (palindromes), in which high-sequence similarity between repeat arms is maintained by gene conversion. These palindromes also harbor microsatellites, considered to evolve via a stepwise mutation model (SMM). Here, we ask whether gene conversion between palindrome microsatellites contributes to their mutational dynamics. First, we study the duplicated tetranucleotide microsatellite DYS385a,b lying in palindrome P4. We show, by comparing observed data with simulated data under a SMM within haplogroups, that observed heteroallelic combinations in which the modal repeat number difference between copies was large, can give rise to homoallelic combinations with zero-repeats difference, equivalent to many single-step mutations. These are unlikely to be generated under a strict SMM, suggesting the action of gene conversion. Second, we show that the intercopy repeat number difference for a large set of duplicated microsatellites in all palindromes in the MSY reference sequence is significantly reduced compared with that for nonpalindrome-duplicated microsatellites, suggesting that the former are characterized by unusual evolutionary dynamics. These observations indicate that gene conversion violates the SMM for microsatellites in palindromes, homogenizing copies within individual Y chromosomes, but increasing overall haplotype diversity among chromosomes within related groups.
DOI Link: 10.1002/humu.22542
ISSN: 1059-7794
eISSN: 1098-1004
Links: http://onlinelibrary.wiley.com/doi/10.1002/humu.22542/abstract
http://hdl.handle.net/2381/32314
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: © 2014 The Authors. *Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Description: PMCID: PMC4233959 Supplementary materials available via DOI: 10.1002/humu.22542
Appears in Collections:Published Articles, Dept. of Genetics

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