Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0155339 (Brown)
 12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pleiotropic proto-oncogene c-kit receptor, implicated in hematopoiesis and melanogenesis, is also known to play an important role in germ cell proliferation and differentiation although the mechanisms for the latter remain unknown. We studied c-kit expression by RT-PCR in various tissues of both fertile and infertile Brown Norway rats. Using different sets of primers, several regions from within the extracellular domain were amplified, cloned, and sequenced. One set of primers, in addition to the expected 352-bp amplicon, revealed a 276-bp transcript, although its biological functions remain unknown. These two transcripts showed varying levels of expression in different tissues of infertile rats against nearly uniform expression in the fertile animals. Significantly, the 352 bp testis transcript showed mutational hotspots from nucleotide 84-266 in the infertile rats. Analysis of testis and brain genomic DNA from these infertile rats showed mutations only in the testis suggesting this to be a postzygotic event. In contrast, no mutation was detected in the genomic DNA of testis and brain of the fertile rats. Protein expression studies showed complete absence of the cytoplasmic kinase domain and soluble c-kit protein in one of the infertile rats. Histological examination of testis of these infertile animals showed stem cell depletion resulting in fewer germ cells. Based on these results, we infer that 352-bp mutant mRNA transcript is implicated in the spermatogenic failure.
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PMID:Expression of proto-oncogene c-kit receptor in rats (Rattus norvegicus) and identification of a mutant mRNA transcript implicated in spermatogenic failure. 1293 3

We studied expression of protooncogene c-kit receptor in Brown Norway rat Rattus norvegicus testis during different stages of postnatal development. Several regions from within the c-kit gene encompassing different domains were amplified employing reverse transcriptase polymerase chain reaction, and the resultant amplicons were cloned and characterized. Maximum expression of c-kit was observed in the testes during the days 10 to 30, suggesting its involvement in transition of primary spermatocytes towards formation of mature spermatozoa. Multiple novel transcripts originating from the extracellular domain were also identified, though their functions remained unknown. The evolutionary divergence of c-kit cDNA of 10 other vertebrates was studied using their sequences from the GenBank. Analyses of c-kit cDNA and its protein sequences in rat and related genomes showed organizational uniqueness across the species. Construction of phylogenetic tree, based on c-kit cDNA and protein sequences delineated all the species successfully and was found to be in accordance with the established positioning of these animals. The organizational uniqueness of c-kit cDNA sequences from the extracellular domain may be exploited as a useful tool in delineating phylogenetic relationship of different species.
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PMID:Expression of protooncogene c-kit receptor in rat testis and uniqueness of extracellular domain across the species with potential in molecular phylogeny. 1496 71