BACKGROUND: Six1 plays an important role in the development of several vertebrate organs, including cranial sensory placodes, somites, and kidney. Although Six1 mutations cause one form of branchio-otic syndrome (BOS), the responsible gene in many patients has not been identified; genes that act downstream of Six1 are potential BOS candidates. RESULTS: We sought to identify novel genes expressed during placode, somite and kidney development by comparing gene expression between control and Six1-expressing ectodermal explants. The expression patterns of 19 of the significantly up-regulated and 11 of the significantly down-regulated genes were assayed from cleavage to larval stages. A total of 28/30 genes are expressed in the otocyst, a structure that is functionally disrupted in BOS, and 26/30 genes are expressed in the nephric mesoderm, a structure that is functionally disrupted in the related branchio-otic-renal (BOR) syndrome. We also identified the chick homologues of five genes and show that they have conserved expression patterns. CONCLUSIONS: Of the 30 genes selected for expression analyses, all are expressed at many of the developmental times and appropriate tissues to be regulated by Six1. Many have the potential to play a role in the disruption of hearing and kidney function seen in BOS/BOR patients.
BACKGROUND:Six1 plays an important role in the development of several vertebrate organs, including cranial sensory placodes, somites, and kidney. Although Six1 mutations cause one form of branchio-otic syndrome (BOS), the responsible gene in many patients has not been identified; genes that act downstream of Six1 are potential BOS candidates. RESULTS: We sought to identify novel genes expressed during placode, somite and kidney development by comparing gene expression between control and Six1-expressing ectodermal explants. The expression patterns of 19 of the significantly up-regulated and 11 of the significantly down-regulated genes were assayed from cleavage to larval stages. A total of 28/30 genes are expressed in the otocyst, a structure that is functionally disrupted in BOS, and 26/30 genes are expressed in the nephric mesoderm, a structure that is functionally disrupted in the related branchio-otic-renal (BOR) syndrome. We also identified the chick homologues of five genes and show that they have conserved expression patterns. CONCLUSIONS: Of the 30 genes selected for expression analyses, all are expressed at many of the developmental times and appropriate tissues to be regulated by Six1. Many have the potential to play a role in the disruption of hearing and kidney function seen in BOS/BORpatients.
Authors: S Abdelhak; V Kalatzis; R Heilig; S Compain; D Samson; C Vincent; D Weil; C Cruaud; I Sahly; M Leibovici; M Bitner-Glindzicz; M Francis; D Lacombe; J Vigneron; R Charachon; K Boven; P Bedbeder; N Van Regemorter; J Weissenbach; C Petit Journal: Nat Genet Date: 1997-02 Impact factor: 38.330
Authors: Kelsey Coppenrath; Andre L P Tavares; Nikko-Ideen Shaidani; Marcin Wlizla; Sally A Moody; Marko Horb Journal: Genesis Date: 2021-10-19 Impact factor: 2.487
Authors: Jean-Louis Plouhinec; Sofía Medina-Ruiz; Caroline Borday; Elsa Bernard; Jean-Philippe Vert; Michael B Eisen; Richard M Harland; Anne H Monsoro-Burq Journal: PLoS Biol Date: 2017-10-19 Impact factor: 8.029
Authors: Esther Pearl; Sean Morrow; Anna Noble; Adelaide Lerebours; Marko Horb; Matthew Guille Journal: Theriogenology Date: 2017-01-17 Impact factor: 2.740
Authors: Ankita M Shah; Patrick Krohn; Aparna B Baxi; Andre L P Tavares; Charles H Sullivan; Yeshwant R Chillakuru; Himani D Majumdar; Karen M Neilson; Sally A Moody Journal: Dis Model Mech Date: 2020-03-03 Impact factor: 5.758