We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance.
- Authors
Kleinjan, Dirk A.; Seawright, Anne; Elgar, Greg; van Heyningen, Veronica
- Abstract
The human eye anomaly aniridia is normally caused by intragenic mutations of PAX6. Several cases of aniridia are, however, associated with chromosomal rearrangements that leave the PAX6 gene intact. We have identified and characterized a novel gene, PAXNEB (C11orf19), downstream (telomeric) of PAX6. Sequence analysis, including interspecies comparisons, show this gene to consist of 10 exons, with an unusually large final intron spanning 134 kb in human and 18 kb in Fugu. This intron is disrupted by each chromosomal rearrangement. The 2-kb PAXNEB transcript, encoding a 424-amino acid protein, is expressed in all cell lines tested. The homologous mouse cDNA is broadly expressed in mouse embryos. PAXNEB is highly conserved from mammals to fish, with some regions of the protein showing conservation to invertebrates, yeast, and plants. The possible role of PAXNEB in aniridia was assessed. Using a transgenic mouse model, we show that the aniridia phenotype of the chromosomal rearrangement cases is not due to the heterozygous loss of PAXNEB function.
- Subjects
GENES; EXONS (Genetics); SPLIT genes; POISONOUS fishes; IMINO acids; TRANSGENIC mice; GENETIC mutation
- Publication
Mammalian Genome, 2002, Vol 13, Issue 2, p102
- ISSN
0938-8990
- Publication type
Article
- DOI
10.1007/s00335-001-3058-y