Home LiteratureArticle Details
PMID: 22253606 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies.

PLoS genetics ·Vol. 8 ·No. 1 ·2012-01-00 ·Pages e1002451

McCue ME, Bannasch DL, Petersen JL, Gurr J, Bailey E, Binns MM, Distl O, Guérin G, Hasegawa T, Hill EW, Leeb T, Lindgren G, Penedo MC, Røed KH, Ryder OA, Swinburne JE, Tozaki T, Valberg SJ, Vaudin M, Lindblad-Toh K, Wade CM, Mickelson JR

Abstract

An equine SNP genotyping array was developed and evaluated on a panel of samples representing 14 domestic horse breeds and 18 evolutionarily related species. More than 54,000 polymorphic SNPs provided an average inter-SNP spacing of ∼43 kb. The mean minor allele frequency across domestic horse breeds was 0.23, and the number of polymorphic SNPs within breeds ranged from 43,287 to 52,085. Genome-wide linkage disequilibrium (LD) in most breeds declined rapidly over the first 50-100 kb and reached background levels within 1-2 Mb. The extent of LD and the level of inbreeding were highest in the Thoroughbred and lowest in the Mongolian and Quarter Horse. Multidimensional scaling (MDS) analyses demonstrated the tight grouping of individuals within most breeds, close proximity of related breeds, and less tight grouping in admixed breeds. The close relationship between the Przewalski's Horse and the domestic horse was demonstrated by pair-wise genetic distance and MDS. Genotyping of other Perissodactyla (zebras, asses, tapirs, and rhinoceros) was variably successful, with call rates and the number of polymorphic loci varying across taxa. Parsimony analysis placed the modern horse as sister taxa to Equus przewalski. The utility of the SNP array in genome-wide association was confirmed by mapping the known recessive chestnut coat color locus (MC1R) and defining a conserved haplotype of ∼750 kb across all breeds. These results demonstrate the high quality of this SNP genotyping resource, its usefulness in diverse genome analyses of the horse, and potential use in related species.

MeSH Terms
Animals Biological Evolution Breeding Chromosome Mapping Gene Frequency Genetic Linkage Genetic Variation Genotyping Techniques Haplotypes Horses/genetics Linkage Disequilibrium Perissodactyla/genetics Phylogeny Polymorphism, Single Nucleotide/genetics
Authors & Affiliations
22 authors, click to expand affiliations / ORCID
McCue Molly E
College of Veterinary Medicine, University of Minnesota, St. Paul, MN, USA. [email protected]
Bannasch Danika L
Petersen Jessica L
Gurr Jessica
Bailey Ernie
Binns Matthew M
Distl Ottmar
Guérin Gérard
Hasegawa Telhisa
Hill Emmeline W
Leeb Tosso
Lindgren Gabriella
Penedo M Cecilia T
Røed Knut H
Ryder Oliver A
Swinburne June E
Tozaki Teruaki
Valberg Stephanie J
Vaudin Mark
Lindblad-Toh Kerstin
Wade Claire M
Mickelson James R
Conflict of Interest

The authors have declared that no competing interests exist.

References (36)
36 references, click to expand
  1. Design of a high density SNP genotyping assay in the pig using SNPs identified and characterized by next generation sequencing technology.
    PLoS One. 2009 Aug 05;4(8):e6524 PMID: 19654876
  2. Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.
    PLoS Genet. 2010 Apr 15;6(4):e1000909 PMID: 20419149
  3. Genome sequence, comparative analysis and haplotype structure of the domestic dog.
    Nature. 2005 Dec 8;438(7069):803-19 PMID: 16341006
  4. Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
    PLoS Genet. 2008 Sep 19;4(9):e1000195 PMID: 18802473
  5. Linkage disequilibrium in humans: models and data.
    Am J Hum Genet. 2001 Jul;69(1):1-14 PMID: 11410837
  6. Genome-wide association analysis of osteochondrosis of the tibiotarsal joint in Norwegian Standardbred trotters.
    Anim Genet. 2010 Dec;41 Suppl 2:111-20 PMID: 21070284
  7. Microsatellite variation in Japanese and Asian horses and their phylogenetic relationship using a European horse outgroup.
    J Hered. 2003 Sep-Oct;94(5):374-80 PMID: 14557389
  8. Haploview: analysis and visualization of LD and haplotype maps.
    Bioinformatics. 2005 Jan 15;21(2):263-5 PMID: 15297300
  9. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.
    Mamm Genome. 1998 Apr;9(4):306-9 PMID: 9530628
  10. A mutation in the MATP gene causes the cream coat colour in the horse.
    Genet Sel Evol. 2003 Jan-Feb;35(1):119-33 PMID: 12605854
  11. Efficient mapping of mendelian traits in dogs through genome-wide association.
    Nat Genet. 2007 Nov;39(11):1321-8 PMID: 17906626
  12. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds.
    Science. 2009 Apr 24;324(5926):528-32 PMID: 19390050
  13. Mitochondrial DNA evolution in the genus Equus.
    Mol Biol Evol. 1986 Nov;3(6):535-46 PMID: 2832696
  14. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.
    Mamm Genome. 1998 Jun;9(6):426-31 PMID: 9585428
  15. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.
    Nat Genet. 2008 Aug;40(8):1004-9 PMID: 18641652
  16. Genetics of swayback in American Saddlebred horses.
    Anim Genet. 2010 Dec;41 Suppl 2:64-71 PMID: 21070278
  17. Genetic variation in Przewalski's horses, with special focus on the last wild caught mare, 231 Orlitza III.
    Cytogenet Genome Res. 2003;102(1-4):226-34 PMID: 14970708
  18. Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in the Thoroughbred horse in the USA.
    Anim Genet. 2010 Dec;41 Suppl 2:154-8 PMID: 21070290
  19. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses.
    Mamm Genome. 1996 Dec;7(12):895-9 PMID: 8995760
  20. Genome sequence, comparative analysis, and population genetics of the domestic horse.
    Science. 2009 Nov 6;326(5954):865-7 PMID: 19892987
  21. Genetic relationship between Mongolian and Norwegian horses?
    Anim Genet. 2003 Feb;34(1):55-8 PMID: 12580788
  22. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.
    Mamm Genome. 2005 Nov;16(11):893-902 PMID: 16284805
  23. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase.
    Am J Hum Genet. 2006 Apr;78(4):629-44 PMID: 16532393
  24. Development and characterization of a high density SNP genotyping assay for cattle.
    PLoS One. 2009;4(4):e5350 PMID: 19390634
  25. A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.
    BMC Genomics. 2010 Oct 11;11:552 PMID: 20932346
  26. Microsatellite diversity, pedigree relatedness and the contributions of founder lineages to thoroughbred horses.
    Anim Genet. 2001 Dec;32(6):360-4 PMID: 11736806
  27. Phylogenetics of Perissodactyla and tests of the molecular clock.
    J Mol Evol. 2000 Jan;50(1):11-21 PMID: 10654255
  28. Coat color variation at the beginning of horse domestication.
    Science. 2009 Apr 24;324(5926):485 PMID: 19390039
  29. PLINK: a tool set for whole-genome association and population-based linkage analyses.
    Am J Hum Genet. 2007 Sep;81(3):559-75 PMID: 17701901
  30. Linkage disequilibrium in the human genome.
    Nature. 2001 May 10;411(6834):199-204 PMID: 11346797
  31. A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
    BMC Genet. 2006 Oct 09;7:46 PMID: 17029645
  32. Phylogenetic relationships within the genus Equus and the evolution of alpha and theta globin genes.
    J Mol Evol. 1998 Dec;47(6):772-83 PMID: 9847419
  33. A genome wide survey of SNP variation reveals the genetic structure of sheep breeds.
    PLoS One. 2009;4(3):e4668 PMID: 19270757
  34. BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping.
    Biotechniques. 2002 Jun;Suppl:56-8, 60-1 PMID: 12083399
  35. A PCR-RFLP for KIT associated with tobiano spotting pattern in horses.
    Anim Genet. 2002 Aug;33(4):301-3 PMID: 12139510
  36. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus).
    Mamm Genome. 2001 Jun;12(6):450-5 PMID: 11353392
Article Info
Journal
PLoS genetics
Abbr.
PLoS Genet
ISSN
1553-7404
Published
2012-01-00
Epub
2012-00-12
Pages
e1002451
Language
English
Region
United States
NLM ID
101239074
PMCID
PMC3257288
Subset
IM
Grants
NIAMS NIH HHS · K08 AR055713 · United States
NIAMS NIH HHS · 1K08AR055713-01A2 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]