Candidate Genes Required for Embryonic Development: A Comparative Analysis of Distal Mouse Chromosome 14 and Human Chromosome 13q22

Mice homozygous for the Ednrbs-1Acrg deletion arrest at embryonic day 8.5 from defects associated with mesoderm development. To determine the molecular basis of this phenotype, we initiated a positional cloning of the Acrg minimal region. This region was predicted to be gene-poor by several criteria...

Full description

Saved in:
Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 2002-02, Vol.79 (2), p.154-161
Main Authors: Kurihara, Laurie Jo, Semenova, Ekaterina, Miller, Webb, Ingram, Robert S., Guan, Xiao-Juan, Tilghman, Shirley M.
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Chromosome 13
Chromosome 14
Chromosome Mapping
Chromosomes, Human, Pair 13
Classical genetics, quantitative genetics, hybrids
Conserved Sequence
Ednrb gene
Embryonic and Fetal Development - genetics
Exons
Fundamental and applied biological sciences. Psychology
Gene Deletion
Genes
Genetics of eukaryotes. Biological and molecular evolution
Humans
Mice
Receptor, Endothelin B
Receptors, Endothelin - genetics
Receptors, Endothelin - physiology
Uchl3 gene
Vertebrata
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mice homozygous for the Ednrbs-1Acrg deletion arrest at embryonic day 8.5 from defects associated with mesoderm development. To determine the molecular basis of this phenotype, we initiated a positional cloning of the Acrg minimal region. This region was predicted to be gene-poor by several criteria. From comparative analysis with the syntenic human locus at 13q22 and gene prediction program analysis, we found a single cluster of four genes within the 1.4-to 2-Mb contig over the Acrg minimal region that is flanked by a gene desert. We also found 130 highly conserved nonexonic sequences that were distributed over the gene cluster and desert. The four genes encode the TBC (Tre-2, BUB2, CDC16) domain-containing protein KIAA0603, the ubiquitin carboxy-terminal hydrolase L3 (UCHL3), the F-box/PDZ/LIM domain protein LMO7,and a novel gene. On the basis of their expression profile during development, all four genes are candidates for the Ednrbs-1Acrg embryonic lethality. Because we determined that a mutant of Uchl3 was viable, three candidate genes remain within the region.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.2002.6692