Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere

Citation
Tk. Footz et al., Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere, GENOME RES, 11(6), 2001, pp. 1053-1070
Citations number
50
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENOME RESEARCH
ISSN journal
1088-9051 → ACNP
Volume
11
Issue
6
Year of publication
2001
Pages
1053 - 1070
Database
ISI
SICI code
1088-9051(200106)11:6<1053:AOTCES>2.0.ZU;2-6
Abstract
We have sequenced a 1.1-Mb region of human chromosome 22q containing the do sage-sensitive gene(s) responsible for car eye syndrome (CES) as well as th e 450-kb homologous region on mouse chromosome 6. Fourteen putative genes w ere identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. Two putative genes (CECR3 and CECR9) were identifie d, in the absence of EST hits, by comparing segments of human and mouse gen omic sequence around two solitary amplified exons, thus showing the utility of comparative genomic sequence analysis in identifying transcripts. Of th e 14 genes, 10 were confirmed to be present in the mouse genomic sequence i n the same order and orientation as in human. Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the cen ter of the contig, neighboring CECR4, and CECR7 and CECR8 which are located in the gene-poor proximal 400 kb of the contig. This latter proximal regio n, located similar to1 Mb from the centromere, shows abundant duplicated ge ne fragments typical of pericentromeric DNA. The margin of this region also delineates the boundary of conserved synteny between the CESCR and mouse c hromosome 6. Because the proximal CESCR appears abundant in duplicated segm ents and, therefore, is likely to be gene poor, we consider the putative ge nes identified in the distal CESCR to represent the majority of candidate g enes for involvement in CES.