The rax homeobox gene is mutated in the eyeless axolotl, Ambystoma mexicanum.

ABSTRACT:

Background

Vertebrate eye formation requires coordinated inductive interactions between different embryonic tissue layers, first described in amphibians. A network of transcription factors and signaling molecules controls these steps, with mutations causing severe ocular, neuronal, and craniofacial defects. In eyeless mutant axolotls, eye morphogenesis arrests at the optic vesicle stage, before lens induction, and development of ventral forebrain structures is disrupted.

Results

We identified a 5-bp deletion in the rax (retina and anterior neural fold homeobox) gene, which was tightly linked to the recessive eyeless (e) axolotl locus in an F2 cross. This frameshift mutation, in exon 2, truncates RAX protein within the homeodomain (P154fs35X). Quantitative RNA analysis shows

SUBMITTER: Davis ES 

PROVIDER: S-EPMC8907009 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature