In a shake of a lamb's tail: Using genomics to unravel a cause of chondrodysplasia in Texel sheep

Animal Genetics

Volumn 43, Issue SUPPL. 1, 2012, Pages 9-18

  Zhao, X ^a   Onteru, S K ^a   Piripi, S ^b,c   Thompson, K G ^b   Blair, H T ^b   Garrick, D J ^a   Rothschild, M F ^a  

^a IOWA STATE UNIVERSITY   (United States)

^b MASSEY UNIVERSITY   (New Zealand)

^c OREGON STATE UNIVERSITY   (United States)

Author keywords

chondrodysplasia; deletion; genetic disease; SLC13A1 gene; Texel sheep

Indexed keywords

CATION TRANSPORT PROTEIN; COTRANSPORTER; SODIUM SULFATE COTRANSPORTER;

ALLELE; AMINO ACID SEQUENCE; ANIMAL; ANIMAL DISEASE; ARTICLE; CHONDRODYSPLASIA; CHROMOSOME; CHROMOSOME MAP; FEMALE; GENE DOSAGE; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; GENOMICS; HOMOZYGOTE; MALE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHEEP; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CATION TRANSPORT PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; FEMALE; GENE DOSAGE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HOMOZYGOTE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; SHEEP, DOMESTIC; SYMPORTERS;

ANIMALIA; OVIS; OVIS ARIES;

EID: 84856169774     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/j.1365-2052.2011.02304.x     Document Type: Article

References (33)

1. Becker D., Tetens J., Brunner A., Burstel D., Ganter M., Kijas J., &, Drogemuller C., (2010) Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. PLoS One 5, e8689.
2. Beckmann J.S., &, Soller M., (1983) Restriction fragment length polymorphisms in genetic improvement: methodologies, mapping and costs. Theoretical and Applied Genetics 67, 35-43.
3. Beever J.E., Smit M.A., Meyers S.N., Hadfield T.S., Bottema C., Albretsen J., &, Cockett N.E., (2006) A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep. Animal Genetics 37, 66-71.
4. Byrne T.J., (2005) Investigation into the Inheritance and Biochemistry of Chondrodysplasia in Texel Sheep. Master's thesis. Massey University, New Zealand.
5. Byrne T.J., Blair H.T., Thompson K.G., Stowell K.M., &, Piripi S., (2008) Inheritance of chondrodysplasia in Texel sheep. Proceedings of the New Zealand Society of Animal Production 68, 20-2.
6. Chapman J.M., &, Karniski L.P., (2010) Protein localization of SLC26A2 (DTDST) in rat kidney. Histochemistry Cell Biology 133, 541-7.
7. Chen Y., Liu Y.J., Pei Y.F., Yang T.L., Deng F.Y., Liu X.G., Li D.Y., &, Deng H.W., (2011) Copy number variations at the Prader-Willi Syndrome region on chromosome 15 and associations with obesity in whites. Obesity (Silver Spring) 19, 1229-34.
8. Cockett N.E., Shay T.L., Beever J.E., Nielsen D., Albretsen J., Georges M., Peterson K., Stephens A., Vernon W., Timofeevskaia O., South S., Mork J., Maciulis A., &, Bunch T.D., (1999) Localization of the locus causing spider lamb syndrome to the distal end of ovine chromosome 6. Mammalian Genome 10, 35-8.
9. Dawson P.A., Beck L., &, Markovich D., (2003) Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene. Proceedings of the National Academy of Sciences of the United States of America 100, 13704-9.
10. Fernandes I., Hampson G., Cahours X., Morin P., Coureau C., Couette S., Prie D., Biber J., Murer H., Friedlander G., &, Silve C., (1997) Abnormal sulfate metabolism in vitamin D-deficient rats. The Journal of Clinic Investigation 100, 2196-203.
11. Hastbacka J., Superti-Furga A., Wilcox W.R., Rimoin D.L., Cohn D.H., &, Lander E.S., (1996) Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. The American Journal of Human Genetics 58, 255-62.
12. Hastbacka J., Kerrebrock A., Mokkala K., Clines G., Lovett M., Kaitila I., de la Chapelle A., &, Lander E.S., (1999) Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). European Journal of Human Genetics 7, 664-70.
13. Hediger M.A., Romero M.F., Peng J.B., Rolfs A., Takanaga H., &, Bruford E.A., (2004) The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteins-introduction. Pflugers Archive 447, 465-8.
14. Lee A., Beck L., &, Markovich D., (2000) The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: organization, chromosomal localization, and functional characterization. Genomics 70, 354-63.
15. Mamtani M., Anaya J.M., He W., &, Ahuja S.K., (2010) Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases. Genes Immunity 11, 155-60.
16. Markovich D., (2001) Physiological roles and regulation of mammalian sulfate transporters. Physiological Reviews 81, 1499-533.
17. Markovich D., Romano A., Storelli C., &, Verri T., (2008) Functional and structural characterization of the zebrafish Na+-sulfate cotransporter 1 (NaS1) cDNA and gene (slc13a1). Physiology Genomics 34, 256-64.
18. Martínez S., Valdés J., &, Alonso R.A., (2000) Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene. Canadian Journal of Veterinary research 64, 243-5.
19. Parker H.G., VonHoldt B.M., Quignon P., Margulies E.H., Shao S., Mosher D.S., Spady T.C., Elkahloun A., Cargill M., Jones P.G., Maslen C.L., Acland G.M., Sutter N.B., Kuroki K., Bustamante C.D., Wayne R.K., &, Ostrander E.A., (2009) An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325, 995-8.
20. Piripi S.A., (2008) Chondrodysplasia of Texel Sheep. Doctorate thesis. Massey University, New Zealand.
21. Piripi S.A., Williams M.A.K., &, Thompon K.G., (2011) On the sulfation pattern of polysaccharides in the extracellular matrix of sheep with chondrodysplasia. Cartilage 2, 36-9.
22. Rothschild M.F., &, Soller M., (1997) Candidate gene analysis to detect traits of economic importance in domestic livestock. Probe 8, 13-22.
23. Rothschild M., Jacobson C., Vaske D., Tuggle C., Wang L., Short T., Eckardt G., Sasaki S., Vincent A., McLaren D., Southwood O., van der Steen H., Mileham A., &, Plastow G., (1996) The estrogen receptor locus is associated with a major gene influencing litter size in pigs. Proceedings of the National Academy of Sciences of the United States of America 93, 201-5.
24. Rozen S., &, Skaletsky H.J., (2000) primer 3 on the WWW for general users and for biologist programmers. In: Bioinformatics Methods and Protocols: Methods in Molecular Biology (Eds by, S. Misener, &, S.A. Krawetz,), pp. 365-86. Humana Press Inc., Totowa, NJ.
25. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., Leotta A., Pai D., Zhang R., Lee Y.H., Hicks J., Spence S.J., Lee A.T., Puura K., Lehtimäki T., Ledbetter D., Gregersen P.K., Bregman J., Sutcliffe J.S., Jobanputra V., Chung W., Warburton D., King M.C., Skuse D., Geschwind D.H., Gilliam T.C., Ye K., &, Wigler M., (2007) Strong association of de novo copy number mutations with autism. Science 316, 445-9.
26. Soller M., &, Beckmann J.S., (1983) Genetic polymorphisms in varietal identification and genetic improvement. Theoretical and Applied Genetics 67, 25-33.
27. Superti-Furga A., Hastbacka J., Wilcox W.R., Cohn D.H., van der Harten H.J., Rossi A., Blau N., Rimoin D.L., Steinmann B., Lander E.S., &, Gitzelmann R., (1996) Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genetics 12, 100-2.
28. Thompson K.G., Blair H.T., Linney L.E., West D.M., &, Byrne T., (2005) Inherited chondrodysplasia in Texel sheep. New Zealand Veterinary Journal 53, 208-12.
29. Woelfle J.V., Brenner R.E., Zabel B., Reichel H., &, Nelitz M., (2011) Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: a case report of a novel COL10A1 mutation. Journal of Orthopaedic Science 16, 245-9.
30. Zankl A., Mornet E., &, Wong S., (2008) Specific ultrasonographic features of perinatal lethal hypophosphatasia. American Journal of Medical Genetics 146A, 1200-4.
31. Zhao X., Du Z.Q., Vukasinovic N., Rodriguez F., Clutter A.C., &, Rothschild M.F., (2009) Association of HOXA10, ZFPM2, and MMP2 genes with scrotal hernias evaluated via biological candidate gene analyses in pigs. Journal of Animal Breeding and Genetics 70, 1006-12.
32. Zhao X., Du Z.Q., &, Rothschild M.F., (2010) An association study of 20 candidate genes with cryptorchidism in Siberian Husky dogs. Journal of Animal Breeding and Genetics 127, 327-31.
33. Zhao X., Dittmer K.E., Blair H.T., Thompson K.G., Rothschild M.F., &, Garrick D.J., (2011) A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep. PLoS One 6, e21739. DOI: 10.1371/journal.pone.0021739.