Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues

E V Semina; H A Mintz-Hittner; J C Murray

doi:10.1006/geno.1999.6093

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Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues

Journal article

Peer reviewed

Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues

E V Semina, H A Mintz-Hittner and J C Murray

Genomics (San Diego, Calif.), Vol.63(2), pp.289-293

01/15/2000

DOI: 10.1006/geno.1999.6093

PMID: 10673340

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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.

Eye - metabolism

Exons

Introns

Humans

DNA, Complementary - genetics

Molecular Sequence Data

Chromosome Mapping

Transcription Factors - genetics

Homeodomain Proteins - genetics

Sequence Homology, Amino Acid

Eye - embryology

Animals

Gene Expression Regulation, Developmental

Base Sequence

Mice

Eye Proteins - genetics

Chromosomes, Human, Pair 20 - genetics

Details

Title: Subtitle: Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues
Creators: E V Semina - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. esemina@blue.weeg.uiowa.edu
H A Mintz-Hittner
J C Murray
Resource Type: Journal article
Publication Details: Genomics (San Diego, Calif.), Vol.63(2), pp.289-293
DOI: 10.1006/geno.1999.6093
PMID: 10673340
NLM abbreviation: Genomics
ISSN: 0888-7543
eISSN: 1089-8646
Publisher: United States
Grant note: EY10608 / NEI NIH HHS EY12384 / NEI NIH HHS
Language: English
Date published: 01/15/2000
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025419302771

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