YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p

Journal Article · Tue Mar 05 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0140· OSTI ID:459012

Wedemeyer, N; Lengeling, A; Ronsiek, M ^[1]

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1. Univ. of Bielefeld (Germany); and others

Despite rapid progress in the physical characterization of murine and human genomes, little molecular information is available on certain regions, e.g., proximal mouse chromosome 11 (Chr 11) and human chromosome 2p (Chr2p). We have localized the wobbler spinal atrophy gene wr to proximal mouse Chr 11, tightly linked to Rab1, a gene coding for a small GTP-binding protein, and Glns-ps1, an intronless pseudogene of the glutamine synthetase gene. We have not used these markers to construct a 1.3-Mb yeast artificial chromosome (YAC) contig of the Rab1 region on mouse Chr 11. Four YAC clones isolated from two independent YAC libraries were characterized by rare-cutting analysis, fluorescence in situ hybridization (FISH), and sequence-tagged site (STS) isolation and mapping. Rab1 and Glns-ps1 were found to be only 200 kb apart. A potential CpG island near a methylated NarI site and a trapped exon, ETG1.1, were found over 250 kb from Rab1. Two overlapping YACs were identified that contained a 150-kb region of human Chr 2p, comprising the RAB1 locus, AHY1.1, and the human homologue of ETG1.1, indicating a high degree of conservation of this region in the two species. We mapped AHY1.1 and thus human RAB1 on Chr 2p13.4-p14 using somatic cell hybrids and a radiation hybrid panel, thus extending a known region of conserved synteny between mouse Chr 11 and human Chr 2p. Recently, the gene LMGMD2B for a human recessive neuromuscular disease, limb girdle muscular dystrophy type 2B, has been mapped to 2p13-p16. The conservation between the mouse Rab1 and human RAB1 regions will be helpful in identifying candidate genes for the wobbler spinal muscular atrophy and in clarifying a possible relationship between wr and LMGMD2B. 33 refs., 7 figs., 3 tabs.

• OSTI ID: 459012
• Journal Information: Genomics, Vol. 32, Issue 3; Other Information: PBD: 5 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
GENETIC MAPPING
HEREDITARY DISEASES
GENETICS
CHROMOSOMES
CONTIGS
DESIGN
MUSCLES
HUMAN CHROMOSOME 2
NUCLEOTIDES
METHYLATION
MICE
PROTEINS
BIOLOGICAL MARKERS
DNA HYBRIDIZATION
FLUORESCENCE
EXONS
SOMATIC CELLS
RADIATION INDUCED MUTANTS
NERVOUS SYSTEM DISEASES
POLYMERASE CHAIN REACTION