PMID- 24610746
OWN - NLM
STAT- MEDLINE
DCOM- 20141212
LR  - 20211021
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 35
IP  - 5
DP  - 2014 May
TI  - Gene conversion violates the stepwise mutation model for microsatellites in 
      y-chromosomal palindromic repeats.
PG  - 609-17
LID - 10.1002/humu.22542 [doi]
AB  - 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.
CI  - (c) 2014 The Authors. *Human Mutation published by Wiley Periodicals, Inc.
FAU - Balaresque, Patricia
AU  - Balaresque P
AD  - UMR5288 CNRS/UPS-AMIS-Universite Paul Sabatier, Toulouse, France; Department of 
      Genetics, University of Leicester, Leicester, UK.
FAU - King, Turi E
AU  - King TE
FAU - Parkin, Emma J
AU  - Parkin EJ
FAU - Heyer, Evelyne
AU  - Heyer E
FAU - Carvalho-Silva, Denise
AU  - Carvalho-Silva D
FAU - Kraaijenbrink, Thirsa
AU  - Kraaijenbrink T
FAU - de Knijff, Peter
AU  - de Knijff P
FAU - Tyler-Smith, Chris
AU  - Tyler-Smith C
FAU - Jobling, Mark A
AU  - Jobling MA
LA  - eng
GR  - 087576/Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Chromosomes, Human, Y/genetics
MH  - *Gene Conversion
MH  - Humans
MH  - Inverted Repeat Sequences/*genetics
MH  - Microsatellite Repeats/*genetics
MH  - Models, Genetic
MH  - *Mutation
PMC - PMC4233959
OTO - NOTNLM
OT  - DYS385
OT  - Y chromosome
OT  - gene conversion
OT  - microsatellite
OT  - palindrome
OT  - stepwise mutation model
EDAT- 2014/03/13 06:00
MHDA- 2014/12/17 06:00
PMCR- 2014/11/17
CRDT- 2014/03/11 06:00
PHST- 2013/12/13 00:00 [received]
PHST- 2014/02/25 00:00 [accepted]
PHST- 2014/03/11 06:00 [entrez]
PHST- 2014/03/13 06:00 [pubmed]
PHST- 2014/12/17 06:00 [medline]
PHST- 2014/11/17 00:00 [pmc-release]
AID - 10.1002/humu.22542 [doi]
PST - ppublish
SO  - Hum Mutat. 2014 May;35(5):609-17. doi: 10.1002/humu.22542.