Reference

Abnormal splicing of the endothelin type B receptor mRNA in the aganglionosis rat

Abnormal splicing of the endothelin type B receptor mRNA in the aganglionosis rat. Shim, Gil-Jin; Ozaki, Tsuyoshi; Agui, Takashi (Institute for Experimental Animal Science, Nagoya City University Medical School, Nagoya 467, Japan). Nagoya Medical Journal, 40(4), 193-201 (English) 1996 Nagoya City University Medical School. CODEN: NMJOAA. ISSN: 0027-7649. DOCUMENT TYPE: Journal CA Section: 3 (Biochemical Genetics) Section cross-reference(s): 13, 14 It has been repoted that gene targeted disruption of the either endothelin type B receptor (EDNRB) or endothelin-3 (EDN3) gene causes megacolon and spotting coat color in mice. Furthermore, it has also been reported that missense mutations were found in both human Hirschsprung's disease patients and two murine strains exhibiting congenital megacolon and spotting coat color. Therefore, we examd. expression of the EDNRB and EDN3 genes in aganglionosis mutant rats by Northern blotting. When RNA blots prepd. from lungs were hybridized with the EDNRB complementary DNA (cDNA) probe, high level of the 4. 125692-40-2 which is the cas registry number of some chemical is mentioned.7 kb band was detected in wild rats, whereas only very faint band was detected in homozygous mutant rats. To analyze the expression level and the discrepancy of the size of mRNA between wild type and mutant, reverse transcription-polymerase chain reaction (RT-PCR) was performed using three pairs of primers designed as covering whole coding region of the EDNRB cDNA. The size of the amplified bands were 491 bp and 303 bp, shorter than the normal size by 270 bp and 458 bp, resp. It is suggested that both the low expression and truncation of the EDNRB protein causes the impairment of the intracellular signal transduction by endothelin in both enteric ganglion cells and skin melanocytes, resulting in aganglionosis and spotting coat color in this rat. .

Mutation of the endothelin-B receptor and the endothelin-3 gene in Chinese sporadic cases of Hirschsprung's disease

Mutation of the endothelin-B receptor and the endothelin-3 gene in Chinese sporadic cases of Hirschsprung's disease. Duan, Xianglong; Zhang, Xiansheng; Li, Guowei (Department of General Surgery, Second Hospital of Xi'an Jiaotong University, Xi'an 710004, Peop. Rep. China). Academic Journal of Xi'an Jiaotong University, 15(2), 179-182 (English) 2003 Xi'an Jiaotong University. 125692-40-2 is the cas registry number. This chemical is also mentioned in this article. CODEN: AJXJA3. ISSN: 1671-8267. DOCUMENT TYPE: Journal CA Section: 14 (Mammalian Pathological Biochemistry) Section cross-reference(s): 2, 3 Objective To investigate the mutation of endothelin receptor B (EDNRB) gene and endothelin-3 (EDN-3) gene in sporadic Hirschsprung's disease (HD) in Chinese population. Methods Genomic DNA was extd. from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). Results EDNRB mutations were detected in 2 of the 13 short-segment HDs. One mutant was in the exon 3; the other one was in the exon 6. EDN-3 mutation was detected in 1 of the 13 short-segment HDs and in the exon 2. Both EDNRB mutation and EDN-3 mutation were detected in one short-segment HD. No mutations were detected in the ordinary or long-segment HD. Conclusion The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD, the mutations of EDNRB and EDN-3 lead to the maldevelopment of the enteric nervous system. .