Home About Browse Search
Svenska


Mutations Upstream of the TBX5 and PITX1 Transcription Factor Genes Are Associated with Feathered Legs in the Domestic Chicken

Li, Jingyi and Lee, MiOk and Davis, Brian W. and Lamichhaney, Sangeet and Dorshorst, Ben J. and Siegel, Paul B. and Andersson, Leif (2020). Mutations Upstream of the TBX5 and PITX1 Transcription Factor Genes Are Associated with Feathered Legs in the Domestic Chicken. Molecular Biology and Evolution. 37 , 2477-2486
[Research article]

[img] PDF
590kB

Abstract

Feathered leg is a trait in domestic chickens that has undergone intense selection by fancy breeders. Previous studies have shown that two major loci controlling feathered leg are located on chromosomes 13 and 15. Here, we present genetic evidence for the identification of candidate causal mutations at these loci. This was accomplished by combining classical linkage mapping using an experimental cross segregating for feathered leg and high-resolution identical-by-descent mapping using whole-genome sequence data from 167 samples of chicken with or without feathered legs. The first predicted causal mutation is a single-base change located 25 kb upstream of the gene for the forelimb-specific transcription factor TBX5 on chromosome 15. The second is a 17.7-kb deletion located similar to 200kb upstream of the gene for the hindlimb-specific transcription factor PITX1 on chromosome 13. These mutations are predicted to activate TBX5 and repress PITX1 expression, respectively. The study reveals a remarkable convergence in the evolution of the feathered-leg phenotype in domestic chickens and domestic pigeons, as this phenotype is caused by noncoding mutations upstream of the same two genes. Furthermore, the PITX1 causal variants are large overlapping deletions, 17.7 kb in chicken and 44 kb in pigeons. The results of the present study are consistent with the previously proposed model for pigeon that feathered leg is caused by reduced PITX1 expression and ectopic expression of TBX5 in hindlimb buds resulting in a shift of limb identity from hindlimb to more forelimb-like identity.

Authors/Creators:Li, Jingyi and Lee, MiOk and Davis, Brian W. and Lamichhaney, Sangeet and Dorshorst, Ben J. and Siegel, Paul B. and Andersson, Leif
Title:Mutations Upstream of the TBX5 and PITX1 Transcription Factor Genes Are Associated with Feathered Legs in the Domestic Chicken
Series Name/Journal:Molecular Biology and Evolution
Year of publishing :2020
Volume:37
Page range:2477-2486
Number of Pages:10
Publisher:OXFORD UNIV PRESS
ISSN:0737-4038
Language:English
Publication Type:Research article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 1 Natural sciences > 106 Biological Sciences (Medical to be 3 and Agricultural to be 4) > Evolutionary Biology
Keywords:chicken, feathered-leg, linkage mapping, IBD mapping, TBX5, PITX1
URN:NBN:urn:nbn:se:slu:epsilon-p-108274
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-108274
Additional ID:
Type of IDID
DOI10.1093/molbev/msaa093
Web of Science (WoS)000574386500003
ID Code:23400
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:03 May 2021 19:23
Metadata Last Modified:04 May 2021 05:01

Repository Staff Only: item control page

Downloads

Downloads per year (since September 2012)

View more statistics

Downloads
Hits