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Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics 2000 Jan 15;63(2):289-93

Date

02/16/2000

Pubmed ID

10673340

DOI

10.1006/geno.1999.6093

Scopus ID

2-s2.0-0034007794 (requires institutional sign-in at Scopus site)   76 Citations

Abstract

Homeodomain transcription factors control cell fates during the development of all animals. The paired-like subfamily of homeodomain proteins has been particularly implicated in ocular development in different species. In this paper we report the cDNA sequence, genomic structure, localization, and expression data of a novel paired-like homeobox-containing gene, VSX1, isolated from a human embryonic craniofacial cDNA library using the degenerate-PCR approach. The composed VSX1 cDNA sequence of 1433 bp was predicted to encode a protein of 365 amino acid residues. Maximal homology at the protein level was identified with the paired-like homeoproteins of the CVC-domain family: 92-97% identity was seen in the homeodomain region with 55% overall identity to zebrafish and goldfish Vsx1 and 35% overall identity to goldfish Vsx2 and murine Chx10. The gene was found to consist of five exons that are distributed over 6.2 kb of genomic sequence. VSX1 was localized to the 20p11-q11 region, which is homologous with the distal part of mouse chromosome 2. Expression of VSX1 was detected in embryonic craniofacial and adult ocular tissues. Several ocular phenotypes have been mapped to the VSX1 region in both human and mouse genomes, and its candidacy for these disorders is discussed.

Author List

Semina EV, Mintz-Hittner HA, Murray JC

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Animals
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 20
DNA, Complementary
Exons
Eye
Eye Proteins
Gene Expression Regulation, Developmental
Homeodomain Proteins
Humans
Introns
Mice
Molecular Sequence Data
Sequence Homology, Amino Acid
Transcription Factors