| First Author | Ton CC | Year | 1992 |
| Journal | Genomics | Volume | 13 |
| Issue | 2 | Pages | 251-6 |
| PubMed ID | 1612585 | Mgi Jnum | J:886 |
| Mgi Id | MGI:49419 | Doi | 10.1016/0888-7543(92)90239-o |
| Citation | Ton CC, et al. (1992) Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. Genomics 13(2):251-6 |
| abstractText | Phenotypic parallels and genetic evidence from comparative mapping suggest that the murine Small eye (Sey) and human aniridia (AN) disorders are homologous. This report describes the isolation of a murine embryonic cDNA that is structurally homologous to the AN cDNA were recently cloned. The murine cDNA detects a 2.7-kb transcript in the adult mouse eye and cerebellum and in human glioblastomas, suggesting a neuroectodermal involvement in the etiology of Sey/AN. Sequence comparison between the murine and the human cDNAs revealed extensive homology in nucleotide sequence (greater than 92%) and virtual identity at the amino acid level. None of the differing amino acids was located within the paired box and homeobox DNA-binding domains. These results provide evidence for a common molecular basis underlying the two genetic disorders and suggest that the Sey system would be an authentic model for human AN. |
