title: Genetic and physical delineation of the region overlapping the progressive motor neuropathy (pmn) locus on mouse chromosome 13.
abstract: The mouse autosomal recessive mutation progressive motor neuropathy (pmn) results in early onset motor neuron disease with rapidly progressing hindlimb paralysis, severe muscular wasting, and death at 4--6 weeks of age. pmn is thus considered a good animal model for motor neuron diseases and the characterization of the causative gene should help in understanding the biological causes of human spinal muscular atrophies. Here we report the generation of a physical map based on a high-resolution and high-density genetic map encompassing the pmn locus on mouse chromosome 13. We have positioned the pmn locus and a cluster of markers cosegregating with it within a genetic interval of 0.30 cM, delineated by two clusters of markers. We have constructed an approximately 850-kb contig of BACs spanning the pmn critical region. This BAC contig contains the breakpoint of synteny between mouse chromosome 13 and human 1q and 7p regions and lays the foundation for identifying at the molecular level such a breakpoint region. The physical and genetic maps provided a support for the identification of five transcription units positioned in the nonrecombinant interval, and constitute invaluable tools for the identification of other candidate genes for the pmn mutation.
authors.affiliation: Unité de Génétique des Mammiferes, Institut Pasteur, 25 Rue du Docteur Roux, F-75724 Paris Cedex 15, France.
authors.forename: N
authors.initials: N
authors.lastname: Martin
authors.forename: J
authors.initials: J
authors.lastname: Jaubert
authors.forename: P
authors.initials: P
authors.lastname: Glaser
authors.forename: M
authors.initials: M
authors.lastname: Szatanik
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D020451:Contig Mapping; D018076:DNA, Complementary / Q000378:metabolism; D015723:Gene Library; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D008957:Models, Genetic; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics; D020161:Physical Chromosome Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
chemical_list: D018076:DNA, Complementary; D005819:Genetic Markers