Endothelin receptor type B is aG protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand,endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct.[6]
Inhorses, a mutation in the middle of the EDNRB gene, Ile118Lys, whenhomozygous, causesLethal White Syndrome.[10] In this mutation, a mismatch in theDNA replication causeslysine to be made instead ofisoleucine.[10] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, theheterozygous state, produces an identifiable and completely benign spottedcoat color calledframe overo.[11]
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Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype".European Journal of Human Genetics.5 (4):180–5.doi:10.1159/000484760.PMID9359036.
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Nakamuta M, Takayanagi R, Sakai Y, Sakamoto S, Hagiwara H, Mizuno T, Saito Y, Hirose S, Yamamoto M, Nawata H (May 1991). "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor".Biochemical and Biophysical Research Communications.177 (1):34–9.doi:10.1016/0006-291X(91)91944-8.PMID1710450.
Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H, Masaki T (Jul 1991). "Cloning and functional expression of human cDNA for the ETB endothelin receptor".Biochemical and Biophysical Research Communications.178 (2):656–63.doi:10.1016/0006-291X(91)90158-4.PMID1713452.
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Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A (Dec 1994). "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease".Cell.79 (7):1257–66.doi:10.1016/0092-8674(94)90016-7.PMID8001158.S2CID24894649.
Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M (Dec 1994). "Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons".Cell.79 (7):1277–85.doi:10.1016/0092-8674(94)90018-3.PMID8001160.S2CID32577813.
Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S (Dec 1995). "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease".Human Molecular Genetics.4 (12):2407–9.doi:10.1093/hmg/4.12.2407.PMID8634719.
Kusafuka T, Wang Y, Puri P (Mar 1996). "Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease".Human Molecular Genetics.5 (3):347–9.doi:10.1093/hmg/5.3.347.PMID8852658.
