Leiserson W M, Benzer S, Bonini N M
Division of Biology 156-29, California Institute of Technology, Pasadena, CA 91125, USA.
Mech Dev. 1998 May;73(2):193-202. doi: 10.1016/s0925-4773(98)00052-5.
In eyes absent (eya) mutants, eye progenitor cells undergo cell death early in development. Whereas the phenotype of eya1 is limited to the eye, other mutations are lethal. Genetic and molecular analysis reveals that mutations in one region of the gene cause embryonic lethality, whereas mutations throughout the gene cause defects in eye development. Mosaic analysis indicates that the eya requirement is cell autonomous. In eye-specific mutants, expression in the eye disc is lacking while embryonic expression is normal. Both the type I and type II transcripts are expressed in the developing eye, and expression of either can rescue the eye phenotype. These data indicate a specific requirement for eya function in eye progenitor cells that is normally fulfilled by both transcripts.
在无眼（eya）突变体中，眼祖细胞在发育早期会发生细胞死亡。虽然eya1的表型仅限于眼睛，但其他突变是致死性的。遗传和分子分析表明，该基因一个区域的突变会导致胚胎致死，而整个基因的突变会导致眼睛发育缺陷。镶嵌分析表明，eya的需求是细胞自主性的。在眼睛特异性突变体中，眼盘中缺乏表达，而胚胎期表达正常。I型和II型转录本在发育中的眼睛中均有表达，任一转录本的表达都能挽救眼睛表型。这些数据表明，eya功能在眼祖细胞中有特定需求，通常由这两种转录本共同满足。
