Candidate genes required for embryonic development: A comparative analysis of distal mouse chromosome 14 and human chromosome 13q22

Laurie Jo Kurihara, Ekaterina Semenova, Webb Miller, Robert S. Ingram, Xiao Juan Guan, Shirley M. Tilghman

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)154-161
Number of pages8
JournalGenomics
Volume79
Issue number2
DOIs
StatePublished - Feb 2002

All Science Journal Classification (ASJC) codes

  • Genetics

Keywords

  • Chromosome deletion
  • Comparative study
  • Embryology
  • Genome mapping
  • Human chromosome 13
  • LMO7
  • Mutant mouse strain
  • UCHL3

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