Semina E V, Mintz-Hittner H A, Murray J C
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.
Genomics. 2000 Jan 15;63(2):289-93. doi: 10.1006/geno.1999.6093.
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.
同源结构域转录因子在所有动物的发育过程中控制细胞命运。同源结构域蛋白的成对样亚家族在不同物种的眼部发育中具有特殊作用。在本文中，我们报告了一个新的含成对样同源框基因VSX1的cDNA序列、基因组结构、定位及表达数据，该基因是使用简并PCR方法从人胚胎颅面cDNA文库中分离得到的。VSX1的cDNA序列由1433 bp组成，预计编码一个含365个氨基酸残基的蛋白质。在蛋白质水平上，VSX1与CVC结构域家族的成对样同源蛋白具有最大同源性：在同源结构域区域的同一性为92 - 97%，与斑马鱼和金鱼的Vsx1总体同一性为55%，与金鱼的Vsx2和小鼠的Chx10总体同一性为35%。该基因由五个外显子组成，分布在6.2 kb的基因组序列上。VSX1定位于20p11 - q11区域，该区域与小鼠染色体2的远端同源。在胚胎颅面组织和成年眼部组织中检测到了VSX1的表达。在人类和小鼠基因组中，几种眼部表型已被定位到VSX1区域，并对其作为这些疾病候选基因的可能性进行了讨论。
