THE GENE FOR CYSTATHIONINE BETA-SYNTHASE (CBS) MAPS TO THE SUBTELOMERIC REGION ON HUMAN CHROMOSOME-21Q AND TO PROXIMAL MOUSE CHROMOSOME-17
- 1 April 1988
- journal article
- research article
- Vol. 42 (4), 550-559
Abstract
The human gene for cystathionine .beta.-synthase (CBS), the enzyme deficient in classical homocystinuria, has been assigned to the subtelomeric region of band 21q22.3 by in situ hybridization of a rat cDNA probe to structurally rearranged chromosomes 21. The homologous locus in the mouse (Cbs) was mapped to the proximal half of mouse chromosome 17 by Southern analysis of Chinese hamster .times. mouse somatic cell hybrid DNA. Thus, CBS/Cbs and the gene for .alpha.A-crystalline (CRYA1/Crya-1 or Acry-1) form a conserved linkage group on human (HSA) chromosome region 21q22.3 and mouse (MMU) chromosome 17 region A-C. Features of Down syndrome (DS) caused by three copies of these genes should not be present in mice trisomic for MMU 16 that have been proposed as animal models for DS. Mice partially trisomic for MMU 16 or MMU 17 should allow gene-specific dissection of the trisomy 21 phenotype.This publication has 62 references indexed in Scilit:
- Down syndrome with apparently normal chromosomes: An updateThe Journal of Pediatrics, 1986
- Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial DiseaseNew England Journal of Medicine, 1985
- Comparative Gene Mapping of Human Chromosome 21 and Mouse Chromosome 16aAnnals of the New York Academy of Sciences, 1985
- Mouse Trisomy 16: An Animal Model of Human Trisomy 21 (Down Syndrome)aAnnals of the New York Academy of Sciences, 1985
- Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.Journal of Medical Genetics, 1982
- Comparative gene mapping: murine lambda light chain genes are located in region cen→B5 of mouse chromosome 16 not homolous to human chromosome 21Cytogenetic and Genome Research, 1982
- Assignment of the gene for glyoxalase I to region p21→pter of human chromosome 6Cytogenetic and Genome Research, 1977
- Gene mapping in Mus musculusby interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2Cytogenetic and Genome Research, 1977
- Evidence that Linkage Group IV as well as Linkage Group X of the mouse are in chromosome 10Genetics Research, 1975
- Partial trisomy 21Clinical Genetics, 1973