Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

Animal Genetics

Volumn 41, Issue SUPPL. 2, 2010, Pages 2-7

  Orr, N ^a,e   Back, W ^b,c   Gu, J ^a   Leegwater, P ^b   Govindarajan, P ^a   Conroy, J ^a   Ducro, B ^d   Van Arendonk, J A M ^d   MacHugh, D E ^a   Ennis, S ^a   Hill, E W ^a   Brama, P A J ^a  

^a UNIVERSITY COLLEGE DUBLIN   (Ireland)

^b UTRECHT UNIVERSITY   (Netherlands)

^c GHENT UNIVERSITY   (Belgium)

^d WAGENINGEN UNIVERSITY   (Netherlands)

^e INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Dwarfism; Friesian; Gene; GWAS; Horse; SNP association

Indexed keywords

ANIMALIA; EQUIDAE; FRIESIA;

ANIMAL; DWARFISM; GENETIC ASSOCIATION; GENETICS; HORSE; HORSE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; VETERINARY;

ANIMALS; DWARFISM; GENOME-WIDE ASSOCIATION STUDY; HORSE DISEASES; HORSES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78449287055     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/j.1365-2052.2010.02091.x     Document Type: Conference Paper

References (31)

1. Andresen E., &, Willeberg P., (1976) Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaer Medicin 28, 481-6.
2. Back W., Van Der Lugt J.J., Nikkels P.G., Van Den Belt A.J., Van Der Kolk J.H., &, Stout T.A., (2008) Phenotypic diagnosis of dwarfism in six Friesian horses. Equine Veterinary Journal 40, 282-7.
3. Ballock R.T., &, O'Keefe R.J., (2003) Physiology and pathophysiology of the growth plate. Birth Defects Research. Part C, Embryo Today: Reviews 69, 123-43.
4. Burdan F., Szumilo J., Korobowicz A., etal. (2009) Morphology and physiology of the epiphyseal growth plate. Folia Histochemica et Cytobiologica 47, 5-16.
5. Charlier C., Coppieters W., Rollin F., etal. (2008) Highly effective SNP-based association mapping and management of recessive defects in livestock. Nature Genetics 40, 449-54.
6. Eswarakumar V.P., Monsonego-Ornan E., Pines M., Antonopoulou I., Morriss-Kay G.M., &, Lonai P., (2002) The IIIc alternative of Fgfr2 is a positive regulator of bone formation. Development 129, 3783-93.
7. Ewing B., Hillier L., Wendl M.C., &, Green P., (1998) Base-calling of automated sequencer traces using phred I. Accuracy assessment. Genome Research 8, 175-85.
8. Frazer K.A., Ballinger D.G., Cox D.R., etal., Adebamowo C.A., Ajayi I., Aniagwu T., Marshall P.A., Nkwodimmah C., Royal C.D., Leppert M.F., Dixon M., Peiffer A., Qiu R., Kent A., Kato K., Niikawa N., Adewole I.F., Knoppers B.M., Foster M.W., Clayton E.W., Watkin J., Muzny D., Nazareth L., Sodergren E., Weinstock G.M., Yakub I., Birren B.W., Wilson R.K., Fulton L.L., Rogers J., Burton J., Carter N.P., Clee C.M., Griffiths M., Jones M.C., McLay K., Plumb R.W., Ross M.T., Sims S.K., Willey D.L., Chen Z., Han H., Kang L., Godbout M., Wallenburg J.C., L'Archeveque P., Bellemare G., Saeki K., An D., Fu H., Li Q., Wang Z., Wang R., Holden A.L., Brooks L.D., McEwen J.E., Guyer M.S., Wang V.O., Peterson J.L., Shi M., Spiegel J., Sung L.M., Zacharia L.F., Collins F.S., Kennedy K., Jamieson R., &, Stewart J., (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-61.
9. Gee E.K., Firth E.C., Morel P.C., Fennessy P.F., Grace N.D., &, Mogg T.D., (2005) Enlargements of the distal third metacarpus and metatarsus in Thoroughbred foals at pasture from birth to 160-days of age. New Zealand Veterinary Journal 53, 438-47.
10. Gibson G., (1998) Active role of chondrocyte apoptosis in endochondral ossification. Microscopy Research and Technique 43, 191-204.
11. Gordon D., Abajian C., &, Green P., (1998) Consed: a graphical tool for sequence finishing. Genome Research 8, 195-202.
12. De Graaf-Roelfsema E., Back W., Keizer H.A., Stout T.A.E., &, Van Der Kolk J.H., (2009) Normal function of the hypothalamic-pituitary growth axis in three dwarf Friesian foals. The Veterinary Record 165, 373-6.
13. Hanson J.M., Mol J.A., Leegwater P.A., Kooistra H.S., &, Meij B.P., (2006) The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs. Research in Veterinary Science 81, 316-20.
14. Howie B.N., Carlson C.S., Rieder M.J., &, Nickerson D.A., (2006) Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Human Genetics 120, 58-68.
15. Jeffcott L.B., &, Henson F.M., (1998) Studies on growth cartilage in the horse and their application to aetiopathogenesis of dyschondroplasia (osteochondrosis). Veterinary Journal 156, 177-92.
16. Karlsson E.K., Baranowska I., Wade C.M., etal. (2007) Efficient mapping of mendelian traits in dogs through genome-wide association. Nature Genetics 39, 1321-8.
17. Kent W.J., (2002) BLAT-The BLAST-like alignment tool. Genome Research 12, 656-64.
18. Kronenberg H.M., (2003) Developmental regulation of the growth plate. Nature 423, 332-6.
19. Kvist A.J., Johnson A.E., Morgelin M., etal. (2006) Chondroitin sulfate perlecan enhances collagen fibril formation Implications for perlecan chondrodysplasias. Journal of Biological Chemistry 281, 33127-39.
20. Manolio T.A., Brooks L.D., &, Collins F.S., (2008) A HapMap harvest of insights into the genetics of common disease. Journal of Clinical Investigation 118, 1590-605.
21. Nickerson D.A., Tobe V.O., &, Taylor S.L., (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Research 25, 2745-51.
22. Orr N., &, Chanock S., (2008) Common genetic variation and human disease. Advances in Genetics 62, 1-32.
23. Osinga A., (2000) Het Fokken van het Friese Paard. Schaafsma & Brouwer, Dokkum.
24. Purcell S., Neale B., Todd-Brown K., etal. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics 81, 559-75.
25. R Development Core Team (2009) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna.
26. Rozen S., &, Skaletsky H., (2000) Primer3 on the WWW for general users and for biologist programmers. Methods in Molecular Biology 132, 365-86.
27. Steemers F.J., &, Gunderson K.L., (2007) Whole genome genotyping technologies on the BeadArray platform. Biotechnology Journal 2, 41-9.
28. Vaughan L.C., (1976) Growth plate defects in foals. The Veterinary Record 98, 165-8.
29. Wade C.M., Giulotto E., Sigurdsson S., etal. (2009) Genome sequence, comparative analysis, and population genetics of the domestic horse. Science 326, 865-7.
30. Wassen M.H., Lammens J., Tekoppele J.M., Sakkers R.J., Liu Z., Verbout A.J., &, Bank R.A., (2000) Collagen structure regulates fibril mineralization in osteogenesis as revealed by cross-link patterns in calcifying callus. Journal of Bone and Mineral Research 15, 1776-85.
31. White K.E., Cabral J.M., Davis S.I., etal. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. American Journal of Human Genetics 76, 361-7.