Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C
Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.
Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157.
A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, suggests a role in the development of all components of the inner ear, from the emergence of the otic placode. In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches.
通过定位克隆在8号染色体q13.3区域鉴定出一个与鳃-耳-肾（BOR）综合征相关的候选基因，并证实该基因是该疾病的致病基因。此基因是果蝇无眼基因（eya）的人类同源基因，因此被命名为EYA1。在另外两个人类基因（EYA2和EYA3）的产物中也发现了一个高度保守的271个氨基酸的C末端区域，这表明存在一个新的基因家族。小鼠EYA1直系同源基因Eya1的表达模式表明，从耳基板出现开始，它在内耳所有组成部分的发育中发挥作用。在发育中的肾脏中，表达模式表明Eya1在围绕“刚分裂”的输尿管分支的后肾细胞中发挥作用。
