Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd

Veterinary Ophthalmology

Volumn 12, Issue 6, 2009, Pages 372-378

  Mellersh, Cathryn S ^a   McLaughlin, Bryan ^a   Ahonen, Saija ^b   Pettitt, Louise ^a   Lohi, Hannes ^b   Barnett, Keith C ^a  

^a ANIMAL HEALTH TRUST   (United Kingdom)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Australian Shepherd; Cataract; Hereditary; HSF4; Mutation

Indexed keywords

TRANSCRIPTION FACTOR;

ALLELE; ANIMAL; ANIMAL DISEASE; ARTICLE; CATARACT; DOG; DOG DISEASE; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE;

ALLELES; ANIMALS; CATARACT; DOG DISEASES; DOGS; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; TRANSCRIPTION FACTORS;

CANIS FAMILIARIS;

EID: 70350510068     PISSN: 14635216     EISSN: 14635224     Source Type: Journal    
DOI: 10.1111/j.1463-5224.2009.00735.x     Document Type: Article

References (20)

1. Davidson MG, Nelms SR. Diseases of the lens and cataract formation. In : Veterinary Ophthalmology, 3rd edn ed. Gelatt KN) Lippincott/Williams & Wilkins, Philadelphia, 1999 797 825.
2. Rubin LF. Inherited Eye Diseases in Purebred Dogs. Williams & Wilkins, Baltimore, 1989.
3. Barnett KC. Lens opacities in the dog as models for human eye disease. Transactions of Ophthalmological Society UK 1982 102 : 346 349.
4. Barnett KC. Hereditary cataract in the dog. Journal of Small Animal Practice 1978 19 : 109 120.
5. Hejtmancik JF, Kaiser-Kupfer MI, Piatigorsky J. Molecular biology and inherited disorders of the eye lens. In : The Metabolic and Molecular Basis of Inherited Disease eds Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW) McGraw Hill, New York, 2001 6033 6062.
6. Hejtmancik JF. Congenital cataracts and their molecular genetics. Seminars in Cell and Developmental Biology 2008 19 : 134 149.
7. Reddy MA, Francis PJ, Berry V et al. Molecular genetic basis of inherited cataract and associated phenotypes. Survey of Ophthalmology 2004 49 : 300 315.
8. Mellersh CS, Pettitt L, Forman OP et al. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Veterinary Ophthalmology 2006 9 : 369 378.
9. Barnett KC. Comparative aspects of canine hereditary eye disease. Advances in Veterinary Science and Comparative Medicine 1976 20 : 39 67.
10. Curtis R. Late-onset cataract in the Boston terrier. Veterinary Record 1984 115 : 577 578.
11. Mellersh CS, Graves KT, McLaughlin B et al. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston terrier. Journal of Heredity 2007 98 : 531 533.
12. Gelatt KN, Mackay EO. Prevalence of primary breed-related cataracts in the dog in North America. Veterinary Ophthalmology 2005 8 : 101 111.
13. Smaoui N, Beltaief O, BenHamed S et al. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Investigative Ophthalmology & Visual Science 2004 45 : 2716 2721.
14. Ke T, Wang QK, Ji B et al. Novel HSF4 mutation causes congenital total white cataract in a Chinese family. American Journal of Ophthalmology 2006 142 : 298 303.
15. Talamas E, Jackson L, Koeberl M et al. Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice. Genomics 2006 88 : 44 51.
16. Forshew T, Johnson CA, Khaliq S et al. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Human Genetics 2005 117 : 452 459.
17. Bu L, Jin Y, Shi Y et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nature Genetics 2002 31 : 276 278.
18. Sajjad N, Goebel I, Kakar N et al. A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan. BMC Medical Genetics 2008 9 : 99.
19. Ozaki Y, Mizuno A, Itoh K et al. Inter- and intramolecular disulfide bond formation and related structural changes in the lens proteins. A Raman spectroscopic study in vivo of lens aging. Journal of Biological Chemistry 1987 262 : 15545 15551.
20. Williams DL. Oxidation, antioxidants and cataract formation: a literature review. Veterinary Ophthalmology 2006 9 : 292 298.