EDNRB


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EDNRB

A gene on chromosome 13q22 that encodes endothelin-B receptor, a member of the endothelin receptor group of G-protein-coupled
receptors, located primarily in the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.

Molecular pathology
EDNRB mutations cause Hirschsprung disease type 2.
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In further experiments in mice, stimulating the EdnrB pathway resulted in a 15-fold increase in melanocyte stem cell pigment production within two months, producing "hyperpigmentation."
The team plans further investigations into how other cell repair and signaling pathways interact with EdnrB and melanocyte stem cells.
Citation: Makoto Takeo et al., "EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling," Cell Reports, April 2016 DOI: 10.1016/j.celrep.2016.04.006
'Our study results show that EdnrB signalling plays a critical role in growth and regeneration of certain pigmented skin and hair cells and that this pathway is dependent on a functioning Wnt pathway,' said Dr Mayumi Ito, a cell biologist at NYU Langone and senior investigator on the study.
According to the Dr Ito, the team plans to further investigate how other cell repair and signalling pathways interact with EdnrB and the melanocyte stem cells.
Seven pairs of primers were designed to amplify the exons and the flanking Intronic sequences of the EDNRB gene (Table I).
A transition of T to C in codon (L361S) in exon 5 of EDNRB gene was found in the family WSPK1 (Fig.
Endothelin B receptor protein is encoded by EDNRB gene which is present on the chromosome band 13q22 and consists of 7 exons with a total length of 2400 bases (Arai et al., 1993).
We analyzed germline mutations in genes encoding protein members of the RET and EDNRB signaling pathways to investigate how mutations in those genes correlate with the manifestation of the disease in Chinese HSCR patients.
Using PCR and direct sequencing, we screened all exons of the RET, EDNRB, EDN3, and GDNF genes, including intron/exon boundaries, for mutations and polymorphisms.
The RET and the EDNRB signaling pathways are critical for the normal development of the ENS (18, 20, 21).