title: Analysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.
abstract: The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.
authors.affiliation: Eye Research Institute of Oakland University, Rochester, Michigan 48309.
authors.forename: R L
authors.initials: RL
authors.lastname: Zhang
authors.forename: D A
authors.initials: DA
authors.lastname: Samuelson
authors.forename: Z G
authors.initials: ZG
authors.lastname: Zhang
authors.forename: V N
authors.initials: VN
authors.lastname: Reddy
authors.forename: B S
authors.initials: BS
authors.lastname: Shastry
mesh_terms: D000818:Animals; D020346:Aquaporins; D002386:Cataract / Q000235:genetics / Q000662:veterinary*; D002872:Chromosome Deletion; D003459:Crystallins / Q000235:genetics; D004247:DNA; D015342:DNA Probes; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005136:Eye Proteins / Q000235:genetics; D015321:Gene Rearrangement; D005796:Genes; D005821:Genetic Techniques; D007908:Lens, Crystalline / Q000502:physiology*; D008562:Membrane Glycoproteins / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics / Q000662:veterinary*; D009693:Nucleic Acid Hybridization
chemical_list: D020346:Aquaporins; D003459:Crystallins; D015342:DNA Probes; D005136:Eye Proteins; D008562:Membrane Glycoproteins; C030328:aquaporin 0; D004247:DNA