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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Gariepy, C. E. Yanagisawa, M. Cass, D. T. |
| Description | Author Affiliation: Gariepy CE ( Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas 75235-9050, USA.); |
| Abstract | Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans. Here we report a naturally occurring null mutation of the EDNRB gene in spotting lethal (sl) rats, which exhibit aganglionic megacolon associated with white coat color. We found a 301-bp deletion spanning the exon 1-intron 1 junction of the EDNRB gene in sl rats. A restriction fragment length polymorphism caused by this deletion perfectly cosegregates with the sl phenotype. The deletion leads to production of an aberrantly spliced EDNRB mRNA that lacks the coding sequence for the first and second putative transmembrane domains of the G-protein-coupled receptor. Radioligand binding assays revealed undetectable levels of functional EDNRB in tissues from homozygous sl/sl rats. We conclude that EDNRB plays an essential role in the normal development of two neural crest-derived cell lineages, epidermal melanocytes and enteric neurons, in three mammalian species--humans, mice, and rats. The EDNRB-deficient rat may also prove valuable in defining the postnatal physiologic role of this receptor. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 2 |
| Volume Number | 93 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 1996-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Colon Pathology Ganglia Genes, Lethal Rats, Mutant Strains Receptors, Endothelin Genetics Amino Acid Sequence Animals Cloning, Molecular DNA, Complementary Endothelins Metabolism Hair Abnormalities Heterozygote Homozygote Molecular Sequence Data Polymerase Chain Reaction Polymorphism, Restriction Fragment Length RNA Splicing RNA, Messenger Radioligand Assay Receptor, Endothelin B Sequence Analysis, DNA Sequence Deletion Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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