Chapter 52 Genetic Tests for Large Animals

  1. Doan R, Cohen ND, Sawyer J, et al. 2012. Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare. BMC Genomics 13:78. PUBMED Abstract
  2. Rudolph JA, Spier SJ, Byrns G, et al. 1992. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 2:144. PUBMED Abstract
  3. Shin EK, Perryman LE, Meek K. 1997. A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol 158:3565. PUBMED Abstract
  4. Tryon RC, White SD, Bannasch DL. 2007. Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 90:93. PUBMED Abstract
  5. McCue ME, Valberg SJ, Miller MB, et al. 2008. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 91:458. PUBMED Abstract
  6. Brooks SA, Gabreski N, Miller D, et al. 2010. Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genet 6:e1000909. PUBMED Abstract
  7. Shuster DE, Kehrli ME Jr, Ackermann MR, et al. 1992. Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proc Natl Acad Sci USA 89:9225. PUBMED Abstract
  8. Thomsen B, Horn P, Panitz F, et al. 2006. A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res 16:97. PUBMED Abstract
  9. Charlier C, Coppieters W, Rollin F, et al. 2008. Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449. PUBMED Abstract
  10. Yang GC, Croaker D, Zhang AL, et al. 1998. A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Hum Mol Genet 7:1047. PUBMED Abstract
  11. Metallinos DL, Bowling AT, Rine J. 1998. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease. Mamm Genome 9:426. PUBMED Abstract
  12. Santschi EM, Purdy AK, Valberg SJ, et al. 1998. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome 9:306. PUBMED Abstract
  13. McPherron AC, Lee SJ. 1997. Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci USA 94:12457. PUBMED Abstract
  14. Kambadur R, Sharma M, Smith TP, et al. 1997. Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle. Genome Res 7:910. PUBMED Abstract
  15. Grobet L, Martin LJ, Poncelet D, et al. 1997. A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. Nat Genet 17:71. PUBMED Abstract
  16. Pailhoux E, Vigier B, Chaffaux S, et al. 2001. A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet 29:453. PUBMED Abstract
  17. Polineni P, Aragonda P, Xavier SR, et al. 2006. The bovine QTL viewer: a web accessible database of bovine Quantitative Trait Loci. BMC Bioinformatics 7:283. PUBMED Abstract
  18. Revay T, Villagomez DA, Brewer D, et al. 2012. GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. Sex Dev 6:108. PUBMED Abstract
  19. Brault LS, Cooper CA, Famula TR, et al. 2011. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH. Genomics 97:121. PUBMED Abstract
  20. Graves KT, Henney PJ and Ennis RB. 2009. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 40:35. PUBMED Abstract
  21. Spirito F, Charlesworth A, Linder K, et al. 2002. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol 119:684. PUBMED Abstract
  22. Fox-Clipsham LY, Carter SD, Goodhead I, et al. 2011. Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony. PLoS Genet 7:e1002133. PUBMED Abstract
  23. Andersson LS, Larhammar M, Memic F, et al. 2012. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature 488:642. PUBMED Abstract
  24. Ward TL, Valberg SJ, Adelson DL, et al. 2004. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome 15:570. PUBMED Abstract
  25. Aleman M, Nieto JE, Magdesian KG. 2009. Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses. J Vet Intern Med 23:329. PUBMED Abstract
  26. Andersson LS, Axelsson J, Dubielzig RR, et al. 2011. Multiple congenital ocular anomalies in Icelandic horses. BMC Vet Res 7:21. PUBMED Abstract
  27. Wijnberg ID, Owczarek-Lipska M, Sacchetto R, et al. 2012. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscul Disord 22:361. PUBMED Abstract
  28. Bellone RR, Holl H, Setaluri V, et al. 2013. Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280. PUBMED Abstract
  29. Pailhoux E, Cribiu EP, Parma P, et al. 1995. Molecular analysis of an XY mare with gonadal dysgenesis. Hereditas 122:109. PUBMED Abstract
  30. Christopherson PW, Insalaco TA, van Santen VL, et al. 2006. Characterization of the cDNA Encoding alphaIIb and beta3 in normal horses and two horses with Glanzmann thrombasthenia. Vet Pathol 43:78. PUBMED Abstract
  31. Christopherson PW, van Santen VL, Livesey L, et al. 2007. A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse. J Vet Intern Med 21:196. PUBMED Abstract
  32. Flisikowski K, Venhoranta H, Nowacka-Woszuk J, et al. 2010. A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). PLoS One 5:e15116. PUBMED Abstract
  33. Adams HA, Sonstegard T, VanRaden PM, et al. 2012. Identification of a nonsense mutation in APAF1 that is causal for a decrease in reproductive effeciency in dairy cattle, abstract #P0555. Proceedings of the Plant and Animal Genome XX, San Diego, CA.
  34. Fritz S, Capitan A, Djari A, et al. Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2. PLoS One 8:e65550, 2013. PUBMED Abstract
  35. Sonstegard T, VanRaden PM, Van Tassell C, et al. 2012. Lethal haplotypes in dairy cattle: what lies beneath? Abstract #S0118. Proceedings of the International Society of Animal Genetics, Cairns, Australia.
  36. Yuzbasiyan-Gurkan V, Bartlett E. 2006. Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: an animal model of acrodermatitis enteropathica. Genomics 88:521. PUBMED Abstract
  37. Ogino A, Shimizu K, Tanabe Y, et al. 2012. De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. Anim Genet 43:646. PUBMED Abstract
  38. Buitkamp J, Semmer J, Gotz KU. 2011. Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1). BMC Genet 12:11. PUBMED Abstract
  39. Drogemuller C, Tetens J, Sigurdsson S, et al. 2010. Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet 6. PUBMED Abstract
  40. Drogemuller C, Reichart U, Seuberlich T, et al. 2011. An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One 6:e18931. PUBMED Abstract
  41. Braunschweig MH, Leeb T. 2006. Aberrant low expression level of bovine beta-lactoglobulin is associated with a C to A transversion in the BLG promoter region. J Dairy Sci 89:4414. PUBMED Abstract
  42. Charlier C, Agerholm JS, Coppieters W, et al. 2012. A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. PLoS One 7:e43085. PUBMED Abstract
  43. Simpson MA, Cook RW, Solanki P, et al. 2009. A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet 40:42. PUBMED Abstract
  44. Owczarek-Lipska M, Plattet P, Zipperle L, et al. 2011. A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics 97:51. PUBMED Abstract
  45. Kunieda T, Nakagiri M, Takami M, et al. 1999. Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle. Mamm Genome 10:1146. PUBMED Abstract
  46. Takeda H, Takami M, Oguni T, et al. 2002. Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. Proc Natl Acad Sci USA 99:10549. PUBMED Abstract
  47. Dennis JA, Healy PJ, Beaudet AL, et al. 1989. Molecular definition of bovine argininosuccinate synthetase deficiency. Proc Natl Acad Sci U S A 86:7947. PUBMED Abstract
  48. Schwenger B, Schober S, Simon D. 1993. DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. Genomics 16:241. PUBMED Abstract
  49. Philipp U, Lupp B, Momke S, et al. 2011. A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. PLoS One 6:e28857. PUBMED Abstract
  50. Koltes JE, Mishra BP, Kumar D, et al. 2009. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle. Proc Natl Acad Sci USA 106:19250. PUBMED Abstract
  51. Cavanagh JA, Tammen I, Windsor PA, et al. 2007. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome 18:808. PUBMED Abstract
  52. McCormack BL, Chase CC Jr, Olson TA, et al. 2009. A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene. Domest Anim Endocrinol 37:104. PUBMED Abstract
  53. Tajima M, Miyake S, Takehana K, et al. 1999. Gene defect of dermatan sulfate proteoglycan of cattle affected with a variant form of Ehlers-Danlos syndrome. J Vet Intern Med 13:202. PUBMED Abstract
  54. Colige A, Sieron AL, Li SW, et al. 1999. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet 65:308. PUBMED Abstract
  55. Ford CA, Stanfield AM, Spelman RJ, et al. 2005. A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire. J Invest Dermatol 124:1170. PUBMED Abstract
  56. Menoud A, Welle M, Tetens J, et al. 2012. A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Hohenvieh cattle. PLoS One 7:e38823. PUBMED Abstract
  57. Marron BM, Robinson JL, Gentry PA, et al. 2004. Identification of a mutation associated with factor XI deficiency in Holstein cattle. Anim Genet 35:454. PUBMED Abstract
  58. Akiyama K, Hirano T, Masoudi AA, et al. 2013. A mutation of the GFRA1 gene is responsible for forelimb-girdle muscular anomaly (FMA) of Japanese Black Cattle. Plant and Animal Genome XXI, abstract P0555.
  59. Dennis JA, Moran C and Healy PJ. 2000. The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis. Mamm Genome 11:206. PUBMED Abstract
  60. Tsujino S, Shanske S, Valberg SJ, et al. 1996. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. Neuromuscul Disord 6:19. PUBMED Abstract
  61. Ricketts MH, Simons MJ, Parma J, et al. 1987. A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc Natl Acad Sci U S A 84:3181. PUBMED Abstract
  62. Khalaj M, Abbasi AR, Shimojo K, et al. 2009. A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A. Anim Genet 40:763. PUBMED Abstract
  63. Marron BM and Beever JE. 2012. A mutation in hephaestin-like 1 (HEPHL1) is responsible for hypotrichosis in belted galloway cattle, abstract #P0559. Proceedings of the Plant and Animal Genome XX, San Diego, CA.
  64. Testoni S, Bartolone E, Rossi M, et al. 2012. KDM2B is implicated in bovine lethal multi-organic developmental dysplasia. PLoS One 7:e45634. PUBMED Abstract
  65. Tollersrud OK, Berg T, Healy P, et al. 1997. Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. Eur J Biochem 246:410. PUBMED Abstract
  66. Leipprandt JR, Chen H, Horvath JE, et al. 1999. Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes. Mamm Genome 10:1137. PUBMED Abstract
  67. Zhang B, Healy PJ, Zhao Y, et al. 1990. Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves. J Biol Chem 265:2425. PUBMED Abstract
  68. Singleton AC, Mitchell AL, Byers PH, et al. 2005. Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. Hum Mutat 25:348.
  69. Karageorgos L, Hill B, Bawden MJ, et al. 2007. Bovine mucopolysaccharidosis type IIIB. J Inherit Metab Dis 30:358. PUBMED Abstract
  70. Abbasi AR, Khalaj M, Tsuji T, et al. 2009. A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle. Genomics 94:55. PUBMED Abstract
  71. Kraner S, Sieb JP, Thompson PN, et al. 2002. Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation. Neurogenetics 4:87. PUBMED Abstract
  72. Pierce KD, Handford CA, Morris R, et al. 2001. A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus. Mol Cell Neurosci 17:354. PUBMED Abstract
  73. Sugimoto M, Furuoka H, Sugimoto Y. 2003. Deletion of one of the duplicated Hsp70 genes causes hereditary myopathy of diaphragmatic muscles in Holstein-Friesian cattle. Anim Genet 34:191. PUBMED Abstract
  74. Houweling PJ, Cavanagh JA, Palmer DN, et al. 2006. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. Biochim Biophys Acta 1762:890. PUBMED Abstract
  75. Meyers SN, McDaneld TG, Swist SL, et al. 2010. A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. BMC Genomics 11:337. PUBMED Abstract
  76. Kawakura K, Miyake YI, Murakami RK, et al. 1996. Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72:183.
  77. Capitan A, Allais-Bonnet A, Pinton A, et al. 2012. A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull. PLoS One 7:e49084. PUBMED Abstract
  78. Jenkins MM, LeBoeuf RD, Ruth GR, et al. 1998. A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease. Biochim Biophys Acta 1408:18. PUBMED Abstract
  79. Drogemuller C, Drogemuller M, Leeb T, et al. 2008. Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics 92:474. PUBMED Abstract
  80. Ohba Y, Kitagawa H, Kitoh K, et al. 2000. A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle. Genomics 68:229. PUBMED Abstract
  81. Capitan A, Grohs C, Weiss B, et al. 2011. A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1. PLoS One 6:e22242. PUBMED Abstract
  82. Inaba M, Yawata A, Koshino I, et al. 1996. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest 97:1804. PUBMED Abstract
  83. Thomsen B, Nissen PH, Agerholm JS, et al. 2010. Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene. Neurogenetics 11:175. PUBMED Abstract
  84. Krebs S, Medugorac I, Rother S, et al. 2007. A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. Proc Natl Acad Sci USA 104:6746. PUBMED Abstract
  85. Duchesne A, Gautier M, Chadi S, et al. 2006. Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle. Genomics 88:610. PUBMED Abstract
  86. Johnson EB, Steffen DJ, Lynch KW, et al. 2006. Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease. Genomics 88:600. PUBMED Abstract
  87. Fasquelle C, Sartelet A, Li W, et al. 2009. Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle. PLoS Genet 5:e1000666. PUBMED Abstract
  88. Boudreaux MK, Schmutz SM, French PS. 2007. Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf. Vet Pathol 44:932. PUBMED Abstract
  89. Lunden A, Marklund S, Gustafsson V, et al. 2002. A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk. Genome Res 12:1885. PUBMED Abstract
  90. Berry SD, Davis SR, Beattie EM, et al. 2009. Mutation in bovine beta-carotene oxygenase 2 affects milk color. Genetics 182:923. PUBMED Abstract
  91. Blott S, Kim JJ, Moisio S, et al. 2003. Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated with a major effect on milk yield and composition. Genetics 163:253. PUBMED Abstract
  92. Grisart B, Coppieters W, Farnir F, et al. 2002. Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition. Genome Res 12:222. PUBMED Abstract
  93. Kononoff PJ, Deobald HM, Stewart EL, et al. 2005. The effect of a leptin single nucleotide polymorphism on quality grade, yield grade, and carcass weight of beef cattle. J Anim Sci 83:927. PUBMED Abstract
  94. Lagonigro R, Wiener P, Pilla F, et al. 2003. A new mutation in the coding region of the bovine leptin gene associated with feed intake. Anim Genet 34:371. PUBMED Abstract
  95. Casas E, White SN, Wheeler TL, et al. 2006. Effects of calpastatin and micro-calpain markers in beef cattle on tenderness traits. J Anim Sci 84:520. PUBMED Abstract
  96. Schenkel FS, Miller SP, Jiang Z, et al. 2006. Association of a single nucleotide polymorphism in the calpastatin gene with carcass and meat quality traits of beef cattle. J Anim Sci 84:291. PUBMED Abstract
  97. Page BT, Casas E, Heaton MP, et al. 2002. Evaluation of single-nucleotide polymorphisms in CAPN1 for association with meat tenderness in cattle. J Anim Sci 80:3077. PUBMED Abstract
  98. White SN, Casas E, Wheeler TL, et al. 2005. A new single nucleotide polymorphism in CAPN1 extends the current tenderness marker test to include cattle of Bos indicus, Bos taurus, and crossbred descent. J Anim Sci 83:2001. PUBMED Abstract
  99. Reicher S, Seroussi E, Gootwine E. 2010. A mutation in gene CNGA3 is associated with day blindness in sheep. Genomics 95:101. PUBMED Abstract
  100. Beever JE, Smit MA, Meyers SN, et al. 2006. A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep. Anim Genet 37:66. PUBMED Abstract
  101. Zhao X, Onteru SK, Piripi S, et al. 2012. In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep. Anim Genet 43 Suppl 1:9. PUBMED Abstract
  102. Zhou H, Hickford JG, Fang Q. 2012. A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. Anim Genet 43:471. PUBMED Abstract
  103. Momke S, Kerkmann A, Wohlke A, et al. 2011. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 6:e18943. PUBMED Abstract
  104. Wilson T, Wu XY, Juengel JL, et al. 2001. Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells. Biol Reprod 64:1225. PUBMED Abstract
  105. Mulsant P, Lecerf F, Fabre S, et al. 2001. Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes. Proc Natl Acad Sci USA 98:5104. PUBMED Abstract
  106. Souza CJ, MacDougall C, MacDougall C, et al. 2001. The Booroola (FecB) phenotype is associated with a mutation in the bone morphogenetic receptor type 1 B (BMPR1B) gene. J Endocrinol 169:R1. PUBMED Abstract
  107. Hanrahan JP, Gregan SM, Mulsant P, et al. 2004. Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biol Reprod 70:900. PUBMED Abstract
  108. Silva BD, Castro EA, Souza CJ, et al. 2011. A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increased ovulation rate and prolificacy in homozygous sheep. Anim Genet 42:89. PUBMED Abstract
  109. Galloway SM, McNatty KP, Cambridge LM, et al. 2000. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet 25:279. PUBMED Abstract
  110. Nicol L, Bishop SC, Pong-Wong R, et al. 2009. Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep. Reproduction 138:921. PUBMED Abstract
  111. Chu MX, Liu ZH, Jiao CL, et al. 2007. Mutations in BMPR-IB and BMP-15 genes are associated with litter size in Small Tailed Han sheep (Ovis aries). J Anim Sci 85:598. PUBMED Abstract
  112. Walker KM, Holler LD, Beever JE. 2012. Ovine GM1-gangliosidosis is caused by a mutation in GLB1, abstract no. P0589. Proceedings of the Plant and Animal Genome XX, San Diego, CA.
  113. Torres PA, Zeng BJ, Porter BF, et al. 2010. Tay-Sachs disease in Jacob sheep. Mol Genet Metab 101:357. PUBMED Abstract
  114. Karageorgos L, Lancaster MJ, Nimmo JS, et al. 2011. Gaucher disease in sheep. J Inherit Metab Dis 34:209. PUBMED Abstract
  115. Tan P, Allen JG, Wilton SD, et al. 1997. A splice-site mutation causing ovine McArdle's disease. Neuromuscul Disord 7:336. PUBMED Abstract
  116. Porada CD, Sanada C, Long CR, et al. 2010. Clinical and molecular characterization of a re-established line of sheep exhibiting hemophilia A. J Thromb Haemost 8:276. PUBMED Abstract
  117. Zhao X, Dittmer KE, Blair HT, et al. 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. PUBMED Abstract
  118. Finocchiaro R, Portolano B, Damiani G, et al. 2003. The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep. Genet Sel Evol 35(Suppl 1):S147. PUBMED Abstract
  119. Becker D, Tetens J, Brunner A, et al. 2010. Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. PLoS One 5:e8689. PUBMED Abstract
  120. Zhao X, Onteru SK, Dittmer KE, et al. 2012. A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity (Edinb) 109:156. PUBMED Abstract
  121. Freking BA, Murphy SK, Wylie AA, et al. 2002. Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. Genome Res 12:1496. PUBMED Abstract
  122. Clop A, Marcq F, Takeda H, et al. 2006. A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nat Genet 38:813. PUBMED Abstract
  123. Tyynela J, Sohar I, Sleat DE, et al. 2000. A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. EMBO J 19:2786. PUBMED Abstract
  124. Frugier T, Mitchell NL, Tammen I, et al. 2008. A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. Neurobiol Dis 29:306.
  125. Tammen I, Houweling PJ, Frugier T, et al. 2006. A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA. Biochim Biophys Acta 1762:898. PUBMED Abstract
  126. Nezamzadeh R, Seubert A, Pohlenz J, et al. 2005. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. Anim Genet 36:297. PUBMED Abstract
  127. Westaway D, Zuliani V, Cooper CM, et al. 1994. Homozygosity for prion protein alleles encoding glutamine-171 renders sheep susceptible to natural scrapie. Genes Dev 8:959. PUBMED Abstract
  128. Pauciullo A, Fleck K, Luhken G, et al. 2013. Dual-color high resolution fiber-FISH analysis on lethal white syndrome carriers in sheep. Cytogenet Genome Res 140:36-54. PUBMED Abstract
  129. Vage DI, Boman IA. 2010. A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumulation of carotenoids in adipose tissue in sheep (Ovis aries). BMC Genet 11:10. PUBMED Abstract
  130. Perez MJ, Leroux C, Bonastre AS, et al. 1994. Occurrence of a LINE sequence in the 3´ UTR of the goat alpha s1-casein E-encoding allele associated with reduced protein synthesis level. Gene 147:179. PUBMED Abstract
  131. Ramunno L, Longobardi E, Pappalardo M, et al. 2001. An allele associated with a non-detectable amount of alpha s2 casein in goat milk. Anim Genet 32:19. PUBMED Abstract
  132. Persuy MA, Printz C, Medrano JF, et al. 1999. A single nucleotide deletion resulting in a premature stop codon is associated with marked reduction of transcripts from a goat beta-casein null allele. Anim Genet 30:444. PUBMED Abstract
  133. Veenboer GJ, de Vijlder JJ. 1993. Molecular basis of the thyroglobulin synthesis defect in Dutch goats. Endocrinology 132:377. PUBMED Abstract
  134. Pailhoux E, Vigier B, Schibler L, et al. 2005. Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation. Genet Sel Evol 37(Suppl 1):S55. PUBMED Abstract
  135. Leipprandt JR, Kraemer SA, Haithcock BE, et al. 1996. Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. Genomics 37:51. PUBMED Abstract
  136. Cavanagh KT, Leipprandt JR, Jones MZ, et al. 1995. Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5´-region of the coding sequence. J Inherit Metab Dis 18:96. PUBMED Abstract
  137. Beck CL, Fahlke C, George AL Jr. 1996. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci USA 93:11248. PUBMED Abstract
  138. Rieder S, Taourit S, Mariat D, et al. 2001. 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 12:450. PUBMED Abstract
  139. Girardot M, Guibert S, Laforet MP, et al. 2006. The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregulation of the Normande Agouti gene. Pigment Cell Res 19:346. PUBMED Abstract
  140. Norris BJ, Whan VA. 2008. A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep. Genome Res 18:1282. PUBMED Abstract
  141. Berryere TG, Schmutz SM, Schimpf RJ, et al. 2003. TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow? Anim Genet 34:169. PUBMED Abstract
  142. Gratten J, Beraldi D, Lowder BV, et al. 2007. Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour polymorphism in a free-living population of Soay sheep. Proc Biol Sci 274:619. PUBMED Abstract
  143. Cook D, Brooks S, Bellone R, et al. 2008. Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS Genet 4:e1000195. PUBMED Abstract
  144. Mariat D, Taourit S, Guerin G. 2003. A mutation in the MATP gene causes the cream coat colour in the horse. Genet Sel Evol 35:119. PUBMED Abstract
  145. Jolly RD, Wills JL, Kenny JE, et al. 2008. Coat-colour dilution and hypotrichosis in Hereford crossbred calves. N Z Vet J 56:74. PUBMED Abstract
  146. Brooks SA, Lear TL, Adelson DL, et al. 2007. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res 119:225. PUBMED Abstract
  147. Hayes BJ, Pryce J, Chamberlain AJ, et al. 2010. Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits. PLoS Genet 6:e1001139. PUBMED Abstract
  148. Marklund L, Moller MJ, Sandberg K, et al. 1996. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm Genome 7:895. PUBMED Abstract
  149. Adalsteinsson S, Bjarnadottir S, Vage DI, et al. 1995. Brown coat color in Icelandic cattle produced by the loci Extension and Agouti. J Hered 86:395. PUBMED Abstract
  150. Vage DI, Klungland H, Lu D, et al. 1999. Molecular and pharmacological characterization of dominant black coat color in sheep. Mamm Genome 10:39. PUBMED Abstract
  151. Fontanesi L, Beretti F, Riggio V, et al. 2009. Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences. BMC Genet 10:47. PUBMED Abstract
  152. Rosengren Pielberg G, Golovko A, Sundstrom E, et al. 2008. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet 40:1004. PUBMED Abstract
  153. Hauswirth R, Haase B, Blatter M, et al. 2012. Mutations in MITF and PAX3 cause “splashed white” and other white spotting phenotypes in horses. PLoS Genet 8:e1002653. PUBMED Abstract
  154. Seitz JJ, Schmutz SM, Thue TD, et al. 1999. A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle. Mamm Genome 10:710. PUBMED Abstract
  155. Brunberg E, Andersson L, Cothran G, et al. 2006. A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genet 7:46. PUBMED Abstract