Evaluation of three canine γ-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshund
نویسندگان
چکیده
PURPOSE We analyzed the gamma-crystallin genes CRYGB, CRYGC, and CRYGS in the dog and tested single nucleotide polymorphisms (SNPs) for linkage and association with primary noncongenital cataract (CAT) in the dachshund, a popular dog breed. The crystallin genes may be involved in the pathogenesis of canine CAT as shown in humans and mice. METHODS We sequenced all exons and their flanking intronic regions of the CRYGB, CRYGC, and CRYGS genes and in addition, the complete cDNA of these three genes using lens tissue from CAT-affected and unaffected dogs of several breeds. After examining BLASTN analyses, we compared the gene structure with the predicted genes in the current dog genome assembly and the orthologs of humans and mice. RESULTS The search for SNPs within these crystallin genes revealed a total of five polymorphisms. As both CAT-affected and unaffected dogs shared identical haplotypes, there was no cosegregation of the SNP alleles with the affected animals. Expression did not differ among CAT-affected and unaffected dogs. CONCLUSIONS The polymorphisms reported for CRYGB, CRYGC, and CRYGS can be excluded as causative mutations for the CAT phenotype in the wire- and smooth-haired dachshund. The canine cataract gene orthologs described here may serve as a valuable resource for further studies in other dog breeds to develop a canine model. Many different dog breeds are affected by CAT. The use of the SNPs presented in this paper can facilitate the screening of more dog breeds.
منابع مشابه
Development of feline microsatellites and SNPs for evaluating primary cataract candidate genes as cause for cataract in Angolan lions (Panthera leo bleyenberghi).
Primary cataracts (CAT) are characterized as any form of opacities of the eye lenses and are not accompanied by other diseases. CAT may impair vision depending on their size, location, and their state of progression. In order to investigate the cause of congenital or juvenile CAT in inbred Angolan lions kept in German zoos, we analyzed the genomic sequences of 4 crystalline genes CRYAA, CRYAB, ...
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Congenital cataracts are a significant cause of visual impairment in childhood. They have a high incidence and are a significant cause of vision loss world wide causing approximately one tenth of childhood blindness [1]. Roughly 50% of congenital cataracts are hereditary and family studies have revealed that approximately 30% of children with bilateral isolated congenital cataract had a genetic...
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ورودعنوان ژورنال:
- Molecular Vision
دوره 13 شماره
صفحات -
تاریخ انتشار 2007