Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis

Wines, M. E., Lee, L., Katari, M. S., Zhang, L., DeRossi, C., Shi, Y., Perkins, S., Feldman, M., McCombie, W. Richard, Holdener, B. C. (2001) Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. Genomics, 72 (1). pp. 88-98. ISSN 08887543 (ISSN)

URL: http://www.ncbi.nlm.nih.gov/pubmed/11247670
DOI: 10.1006/geno.2000.6466

Abstract

The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four novel genes and Il16 in the mesd deletion interval. Two of the novel genes, mesdc1 and mesdc2, are located within the mesd critical region defined by BAC transgenic rescue. We have investigated the fetal role of genes located outside the mesd critical region using BAC transgenic complementation of the mesd early embryonic lethality. Using human radiation hybrid mapping and BAC contig construction, we have identified a conserved region of human chromosome 15 homologous to the mesd, nelg, and hsdr1 functional regions. Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA). © 2001 Academic Press.

Item Type: Paper
Uncontrolled Keywords: contig acne albinism article autosomal dominant disorder bacterial arthritis bacterial artificial chromosome chromosome 15 comparative genomic hybridization deletion mutant expressed sequence tag frontal lobe epilepsy gene mapping genetic analysis mental deficiency mesoderm nucleotide sequence priority journal pyoderma gangrenosum segregation analysis sequence analysis spasticity tapetoretinal degeneration transgene Abnormalities, Multiple Animals Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 15 Contig Mapping Epilepsy, Frontal Lobe Expressed Sequence Tags Genes Humans Linkage (Genetics) Mice Microsatellite Repeats Molecular Sequence Data Mutation Phenotype Physical Chromosome Mapping Radiation Hybrid Mapping Sequence Analysis, DNA Sequence Deletion Syndrome
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > Mapping and Rendering
bioinformatics > genomics and proteomics > Mapping and Rendering > Sequence Rendering
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
CSHL Authors:
Communities: CSHL labs > McCombie lab
Depositing User: Matt Covey
Date Deposited: 25 Apr 2013 13:42
Last Modified: 25 Apr 2013 13:42
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28225

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving