The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6.
Cat eye syndrome (CES) is associated with a duplication of a segment of human chromosome 22q11.2. Only one gene, ATP6E, has been previously mapped to this duplicated region. We now report the mapping of the human homologue of the apoptotic agonist Bid to human chromosome 22 near locus D22S57 in the CES region. Dosage analysis demonstrated that BID is located just distal to the CES region critical for the majority of malformations associated with the syndrome (CESCR), as previously defined by a single patient with an unusual supernumerary chromosome. However, BID remains a good candidate for involvement in CES-related mental impairment, and its overexpression may subtly add to the phenotype of CES patients. Our mapping of murine Bid confirms that the synteny of the CESCR and the 22q11 deletion syndrome critical region immediately telomeric on human chromosome 22 is not conserved in mice. Bid and adjacent gene Atp6e were found to map to mousechromosome 6, while the region homologous to the DGSCR is known to map to mouse chromosome 16.
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Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 2E9, Canada.
Birren
B
B
Minoshima
S
S
Asakawa
S
S
Shimizu
N
N
Riazi
M A
MA
McDermid
H E
HE
D000818:Animals; D017209:Apoptosis / Q000235:genetics*; D051023:BH3 Interacting Domain Death Agonist Protein; D002352:Carrier Proteins / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003001:Cloning, Molecular; D005128:Eye Diseases / Q000235:genetics*; D018628:Gene Dosage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014407:Tumor Cells, Cultured
D051023:BH3 Interacting Domain Death Agonist Protein; C494814:BID protein, human; C494815:Bid protein, mouse; D002352:Carrier Proteins; D005819:Genetic Markers; D012333:RNA, Messenger