Vet Comp Orthop Traumatol 2016; 29(04): 269-276
DOI: 10.3415/VCOT-16-02-0037
Review Article
Schattauer GmbH

Digging for known genetic mutations underlying inherited bone and cartilage characteristics and disorders in the dog and cat

Bianca Haase
1   School of Life and Environmental Sciences, Faculty of Veterinary Science, University of Sydney, Sydney, Australia
,
Hamutal Mazrier
1   School of Life and Environmental Sciences, Faculty of Veterinary Science, University of Sydney, Sydney, Australia
,
Claire M. Wade
1   School of Life and Environmental Sciences, Faculty of Veterinary Science, University of Sydney, Sydney, Australia
› Author Affiliations
Further Information

Publication History

Received: 01 March 2016

Accepted: 18 April 2016

Publication Date:
17 December 2017 (online)

Summary

Gene mapping projects for many traits in both dogs and cats have yielded new knowledge. Both researchers and the public alike have been fascinated by the inheritance of breed characteristic phenotypes and sporadic disorders. It has been proposed that selective breeding practices have on occasion generated alterations in structure that might be harmful. In this review, simply inherited disorders and characteristics affecting bone and cartilage for which a putative mutation is known are collected. A better understanding of the known inherited basis of skeletal conditions and disorders will assist veterinarians to improve their diagnoses and increase their effectiveness on advising clients on the prevention, management, prognosis and possible treatment of the conditions.

 
  • References

  • 1 Trut L, Oskina I, Kharlamova A. Animal evolution during domestication: the domesticated fox as a model. Bioessays 2009; 31: 349-360.
  • 2 Vaysse A, Ratnakumar A, Derrien T. et al. Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet 2011; 7: e1002316
  • 3 Vonholdt BM, Pollinger JP, Lohmueller KE. et al. Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature 2010; 464: 898-902.
  • 4 Zhang L, Liang J, Luo W. et al. Genome-wide scan reveals LEMD3 and WIF1 on SSC5 as the candidates for porcine ear size. PloS One 2014; 9: e102085
  • 5 Zhou X, Benson KF, Ashar HR. et al. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C. Nature 1995; 376: 771-774.
  • 6 MacArthur JW. Genetics of body size and related characters. I. Selecting small and large races of the laboratory mouse. The American Naturalist 1944 78. 142-157. Retrieved from http://www.jstor.org/stable/2457976
  • 7 Takanosu M, Takanosu T, Suzuki H. et al. Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract 2008; 49: 197-199.
  • 8 Gandolfi B, Alamri S, Darby WG. et al. A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats Osteoarthritis Cartilage 2016 April 5 [Epub ahead of print] http://dx.doi.org/10.1016/j.joca.2016.03.019
  • 9 Robinson R. The American curl cat. J Hered 1989; 80: 474-475.
  • 10 Nicholas FW. OMIA - Online Mendelian Inheritance in Animals [Online Database]. Sydney, Australia: The University of Sydney, Faculty of Veterinary Science; Last Updated 2016 April 26 [cited 2014 August 19] Available from: http://omia.angis.org.au/
  • 11 Buckingham KJ, McMillin MJ, Brassil MM. et al. Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. Mamm Genome 2013; 24: 400-408.
  • 12 Haworth K, Putt W, Cattanach B. et al. Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype. Mamm Genome 2001; 12: 212-218.
  • 13 Indrebo A, Langeland M, Juul HM. et al. A study of inherited short tail and taillessness in Pembroke Welsh corgi. J Small Anim Pract 2008; 49: 220-224.
  • 14 Hytonen MK, Grall A, Hedan B. et al. Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. J Hered 2009; 100: 236-240.
  • 15 Asher L, Diesel G, Summers JF. et al. Inherited defects in pedigree dogs. Part 1: disorders related to breed standards. Vet J 2009; 182: 402-411.
  • 16 Bannasch D, Young A, Myers J. et al. Localization of canine brachycephaly using an across breed mapping approach. PloS One 2010; 5: e9632
  • 17 Quilez J, Short AD, Martinez V. et al. A selective sweep of >8 Mb on chromosome 26 in the Boxer genome. BMC Genomics 2011; 12: 339
  • 18 Schoenebeck JJ, Hutchinson SA, Byers A. et al. Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet 2012; 8: e1002849
  • 19 Haworth KE, Islam I, Breen M. et al. Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. Mamm Genome 2001; 12: 622-629.
  • 20 Hunemeier T, Salzano FM, Bortolini MC. TCOF1 T/Ser variant and brachycephaly in dogs. Anim Genet 2009; 40: 357-358.
  • 21 Wolf ZT, Leslie EJ, Arzi B. et al. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet 2014; 10: e1004257
  • 22 Wolf ZT, Brand HA, Shaffer JR. et al. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 2015; 11: e1005059
  • 23 Malik R, Allan GS, Howlett CR. et al. Osteochondrodysplasia in Scottish Fold cats. Aust Vet J 1999; 77: 85-92.
  • 24 Fletch SM, Smart ME, Pennock PW. et al. Clinical and pathologic features of chondrodysplasia (dwarfism) in the Alaskan Malamute. J Amer Vet Med Assoc 1973; 162: 357-361.
  • 25 Fletch SM, Pinkerton PH. An inherited anaemia associated with hereditary chondrodysplasia in the Alaskan malamute. Can Vet J 1972; 13: 270-271.
  • 26 Parker HG, VonHoldt BM, Quignon P. et al. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 2009; 325: 995-998.
  • 27 Burns M, Fraser MN. Genetics of the Dog: Basis of Successful Breeding. Plate II. 2nd ed. Edinburgh, London: Oliver & Boyd; 1966
  • 28 Goldstein O, Guyon R, Kukekova A. et al. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 2010; 21: 398-408.
  • 29 Frischknecht M, Niehof-Oellers H, Jagannathan V. et al. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PloS One 2013; 8: e60149
  • 30 Kyostila K, Lappalainen AK, Lohi H. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PloS One 2013; 8: e75621
  • 31 Bingel SA, Sande RD. Chondrodysplasia in the Norwegian Elkhound. Amer J Path 1982; 107: 219-229.
  • 32 Neff MW, Beck JS, Koeman JM. et al. Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PloS One 2012; 7: e51917
  • 33 Jolly RD, Hopwood JJ, Marshall NR. et al. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J 2012; 60: 183-188.
  • 34 TICA: The International Cat Association. Munchkin [Website]. The International Cat Association, Inc. [cited 2014 December 10] Available from: http://tica.org/cat-breeds/item/236
  • 35 Lockwood A, Montgomery R, McEwen V. Bilateral radial hemimelia, polydactyly and cardiomegaly in two cats. Vet Comp Orthop Traumatol 2009; 22: 511-513.
  • 36 Campbell BG, Wootton JA, MacLeod JN. et al. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. Arch Biochem Biophys 2000; 384: 37-46.
  • 37 Valli M, Mottes M, Tenni R. et al. A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. J Biol Chem 1991; 266: 1872-1878.
  • 38 Drogemuller C, Becker D, Brunner A. et al. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 2009; 5: e1000579
  • 39 Campbell BG, Wootton JA, Macleod JN. et al. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner Res 2001; 16: 1147-1153.
  • 40 Schutz E, Brenig B, Scharfenstein M. et al. Osteogenesis imperfecta in dachshunds. Vet Rec 2013; 172: 319
  • 41 Seeliger F, Leeb T, Peters M. et al. Osteogenesis imperfecta in two litters of dachshunds. Vet Path 2003; 40: 530-539.
  • 42 Weizmann Institute of Science. SERPINH1 Gene (Protein Coding) [Website]. GeneCards Human Gene Database; 2016 [Cited on 2015 January 7] Available at: http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINH1
  • 43 Willet CE, Makara M, Reppas G. et al. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in Miniature Schnauzer dogs. PloS One 2015; 10: e0117055
  • 44 Galois L, Mainard D, Delagoutte JP. Polydactyly of the foot. Literature review and case presentations. Acta Orthop Belg 2002; 68: 376-380.
  • 45 Galis F, van Alphen JJM, Metz JAJ. Why five fingers? Evolutionary constraints on digit numbers. Trends Ecol Evol 2001; 16: 637-646.
  • 46 Fondon 3rd JW , Garner HR. Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci U S A 2004; 101: 18058-18063.
  • 47 Pfahler S, Distl O. A massive reduction of the genetic diversity in the Lundehund. Anim Genet 2014; 45: 154
  • 48 Park K, Kang J, Subedi KP. et al. Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics 2008; 179: 2163-2172.
  • 49 Villagomez DA, Alonso RA. A distinct Mendelian autosomal recessive syndrome involving the association of anotia, palate agenesis, bifid tongue, and polydactyly in the dog. Can Vet J 1998; 39: 642-643.
  • 50 Qu S, Tucker SC, Ehrlich JS. et al. Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. Development 1998; 125: 2711-2721.
  • 51 Danforth CH. Heredity of polydactyly in the cat. J Hered 1947; 38: 107-112.
  • 52 Hamelin AAA-S. La Polydactylie Du Maine Coon [The Polydactyly of the Maine Coon]. DVM [Thesis]. Maisons-Aldort, France: École Nationale Vétérinaire D'Alfort; 2011 June 30 Available at: http://theses.vet-alfort.fr/telecharger.php?id=1334
  • 53 Furniss D, Lettice LA, Taylor IB. et al. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet 2008; 17: 2417-2423.
  • 54 Lettice LA, Hill AE, Devenney PS. et al. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet 2008; 17: 978-985.
  • 55 Kleinjan DA, Lettice LA. Long-range gene control and genetic disease. Adv Genet 2008; 61: 339-388.
  • 56 Dallman MJ, Brown RE. Syndactyly in the dog. Canine Pract 1980; 7: 21
  • 57 Leipold HW, Guffy MM. Syndactyly in a German Shepherd Dog. Acta Chir Scand Suppl 1973; 433: 910-911.
  • 58 Matyjasik H, Adamiak Z, Zhalniarovich Y. Syndactyly in a cat. Med Weter 2012; 68: 498-500.
  • 59 Towle HA, Blevins WE, Tuer LR. et al. Syndactyly in a litter of cats. J Small Anim Pract 2007; 48: 292-296.
  • 60 Searle AG. Hereditary split-hand in the domestic cat. Ann Eugen 1953; 17: 279-282.
  • 61 Post LC, Margulies EH, Kuo A. et al. Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein. Dev Biol 2000; 217: 290-300.
  • 62 den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-124. Epub 2001/08/02
  • 63 WSAVA. Hereditary Diseases [Website]. WSAVA Global Veterinary Community; 2012 [cited 2016 March 29] Available at: http://www.wsava.org/guidelines/hereditary-diseases