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Publication type: Journal Article
Document type: Full Paper

Year: 2013

Author(s): Wallner, B; Vogl, C; Shukla, P; Burgstaller, JP; Druml, T; Brem, G

Title: Identification of genetic variation on the horse y chromosome and the tracing of male founder lineages in modern breeds.

Source: PLoS One. 2013; 8(4):e60015



Authors Vetmeduni Vienna:

Brem Gottfried
Burgstaller Jörg
Shukla Priyank
Vogl Claus
Wallner Barbara

Vetmed Research Units
Unit of Molecular Genetics
Unit of Reproductive Biology


Abstract:
The paternally inherited Y chromosome displays the population genetic history of males. While modern domestic horses (Equus caballus) exhibit abundant diversity within maternally inherited mitochondrial DNA, no significant Y-chromosomal sequence diversity has been detected. We used high throughput sequencing technology to identify the first polymorphic Y-chromosomal markers useful for tracing paternal lines. The nucleotide variability of the modern horse Y chromosome is extremely low, resulting in six haplotypes (HT), all clearly distinct from the Przewalski horse (E. przewalskii). The most widespread HT1 is ancestral and the other five haplotypes apparently arose on the background of HT1 by mutation or gene conversion after domestication. Two haplotypes (HT2 and HT3) are widely distributed at high frequencies among modern European horse breeds. Using pedigree information, we trace the distribution of Y-haplotype diversity to particular founders. The mutation leading to HT3 occurred in the germline of the famous English Thoroughbred stallion "Eclipse" or his son or grandson and its prevalence demonstrates the influence of this popular paternal line on modern sport horse breeds. The pervasive introgression of Thoroughbred stallions during the last 200 years to refine autochthonous breeds has strongly affected the distribution of Y-chromosomal variation in modern horse breeds and has led to the replacement of autochthonous Y chromosomes. Only a few northern European breeds bear unique variants at high frequencies or fixed within but not shared among breeds. Our Y-chromosomal data complement the well established mtDNA lineages and document the male side of the genetic history of modern horse breeds and breeding practices.

Keywords Pubmed: Animals
Breeding
Europe
Founder Effect
Gene Frequency
Haplotypes
High-Throughput Nucleotide Sequencing
Horses/genetics*
Male
Microsatellite Repeats
Molecular Sequence Data
Pedigree
Phylogeny
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA
Y Chromosome*


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