EDN3

EDN3

Notation for a gene for Waardenburg type 4 syndrome gene.

EDN3

A gene on chromosome 20q13.2-q13.3 that encodes endothelin 3, a potent vasoconstrictor of the endothelin family, which is a ligand for endothelin receptor type B, the interaction of which is essential for development of neural crest-derived cells (e.g., melanocytes and enteric neurons).

Molecular pathology
EDN3 mutations cause Hirschsprung disease type 4 and Waardenburg syndrome, both of which are congenital disorders of neural crest-derived cells.
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Syndromic causes of inner ear anomalies Syndrome Clinical features Gene involved Waardenburg Auditory-pigmentary syndrome PAX3, MITF, characterized by pigmentary SOX10, EDN3, abnormalities of the hair, SLUG including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; and congenital sensorineural hearing loss.
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.
EDN3 and EDNRB might play important roles in the molecular mechanism of CC [23].
We also confirmed 787 methylated genes associated with proliferation such as Dixdc1, Lrp6, Edn3, and Ephb1.
Biological Gene number Partial related methylated genes function Adhesion 580 Sox-2, Shh, Itpkb, Pkd1, Reln, Ptk2b, Nck2, Ass1 Lphn1, Cdh9, Epdr1, Myf5, Pdpn, Has2, Fgfrl1, Fer Secretion 553 Lphn1, Pim3, Fst, Pim3, Pcsk6, Lax1, Sct, Sytl3 Plcd1, Ykt6, Jak1, Stat2, Myc, Csf2, Lifr, Sos1 Proliferation 787 Dixdc1, Lrp6, Edn3, Nkx2, Cyr61, Src, Sox8, Stk4 Ephb1, Sstr3, Rrm2, Tcf3, Grn, Rhoa, Apc, Nox4, Strn Neuronal 473 Bhlhb9, Cckar, Fzd2, Thy1, Pbx3, regeneration Otx2, Lhx8, Btg2 Klhl1, Dlg2, Pak1, Wnt3, Mif, Tctn1, Evl, Ext1, Als2 Axonal 215 Ifrd1, c-Jun, Bcl2, Tnn, Mbp, Slit3, regeneration Ist1, Drgx, Thy1 Unc5c, Ntrk2, Isl1, Ptk2, Dscam, Atl1, Dnm2, Cxcl12 Figure 3: (a) The distribution of differentially methylated regions (DMRs) peaks in different components of genome.
The endothelin 3 (EDN3) gene on GGA20 was reported as the causal gene for fibromelanosis (Fm) in black Silkie chicken (Dorshorst et al., 2010; 2011).
[15.] R Gath, A Goessling, et al, Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease, Gut: 2001, 48:671-675.
These overlapping genes are ABCG2, AQP8, CA1, CA4, CA7, CD177, CDH3, CLCA4, CLDN8, EDN3, FCGBP, GCG, GUCA2A, GUCA2B, KIAA1199, MMP7, MS4A12, MT1M, MUC2, PYY, SLC26A3, SLC4A4, SPIB, SST, and ZG16.
WS-4'de (Shah-Waardenburg sendromu) ise EDN3 ve EDNRB genlerindeki mutasyon mevcut olup Hirshsprung hastaligi WS-2'deki bulgularla beraberdir (18).
Using previously described primers and conditions (13), we screened all exons of the RET, GDNF, endothelin 3 (EDN3), and endothelin receptor B (EDNRB) genes, including intron/exon boundaries, for mutations and polymorphisms in all family members.
Scientists have identified and located four different genes for Waardenburg syndrome: PAX3, MITF, EDNRB, and EDN3. WS type 1 and 3 have been associated with mutations in the PAX3 gene; WS type 2 with the MITF gene; and WS type 4 with the EDNRB and EDN3 genes.
In addition to the RET gene, we investigated the gene coding for the glial cell-line-derived neurotrophic factor (RET ligand; GDNF), the EDNRB gene, and the gene coding for its ligand, endothelin 3 (EDN3).