Serial translocation by means of circular intermediates underlies colour sidedness in cattle.
Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips. It is also referred to as 'lineback' or 'witrik' (which means white back), as colour-sided animals typically display a white band along their spine. Colour sidedness is documented at least since the Middle Ages and is presently segregating in several cattle breeds around the globe, including in Belgian blue and brown Swiss. Here we report that colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism.
Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège, 4000-Liège (Sart Tilman), Belgium.
Keith
K
Durkin
Wouter
W
Coppieters
Cord
C
Drögemüller
Naima
N
Ahariz
Nadine
N
Cambisano
Tom
T
Druet
Corinne
C
Fasquelle
Aynalem
A
Haile
Petr
P
Horin
Lusheng
L
Huang
Yohichiro
Y
Kamatani
Latifa
L
Karim
Mark
M
Lathrop
Simon
S
Moser
Kor
K
Oldenbroek
Stefan
S
Rieder
Arnaud
A
Sartelet
Johann
J
Sölkner
Hans
H
Stålhammar
Diana
D
Zelenika
Zhiyan
Z
Zhang
Tosso
T
Leeb
Michel
M
Georges
Carole
C
Charlier
D000483:Alleles; D000818:Animals; D002417:Cattle / Q000145:classification / Q000235:genetics*; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D020440:Gene Duplication / Q000235:genetics; D050939:Gene Fusion / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*