title: YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes.
abstract: We generated a yeast artificial chromosome (YAC)/bacterial artificial chromosome (BAC)-based physical and transcript map of a region containing the gracile axonal dystrophy (gad) locus on mouse chromosome 5. The YAC/BAC contig consists of 13 YAC and 49 BAC clones onto which 4 genes, 40 expressed sequence tags, and 7 new DNA polymorphisms were ordered. Using this physical map, we mapped Uchl1 encoding ubiquitin carboxyl-terminal hydrolase I, whose deletion has been determined to cause the gad mutation. We also mapped three other recently identified genes: Hip2, encoding Huntingtin interacting protein 2; Atp3a2, encoding a P-type ATPase; and Pmx2b, encoding PHOX2b.
authors.affiliation: Department of Degenerative Neurological Diseases, National Institute of Neuroscience, Kodaira, 187-8502, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: K
authors.initials: K
authors.lastname: Saigoh
authors.forename: H
authors.initials: H
authors.lastname: Osaka
authors.forename: T
authors.initials: T
authors.lastname: Yamanishi
authors.forename: J
authors.initials: J
authors.lastname: Suh
authors.forename: H
authors.initials: H
authors.lastname: Kiyosawa
authors.forename: Y
authors.initials: Y
authors.lastname: Sakai
authors.forename: S
authors.initials: S
authors.lastname: Wakana
authors.forename: K
authors.initials: K
authors.lastname: Wada
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D016386:Chromosome Walking; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics*; D002876:Chromosomes, Bacterial / Q000235:genetics; D020451:Contig Mapping; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005819:Genetic Markers; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008025:Ligases / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D019150:Neuroaxonal Dystrophies / Q000235:genetics*; D049294:Phospholipid Transfer Proteins; D020161:Physical Chromosome Mapping; D013869:Thiolester Hydrolases / Q000235:genetics; D014157:Transcription Factors; D043222:Ubiquitin Thiolesterase; D044763:Ubiquitin-Conjugating Enzymes
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; D018398:Homeodomain Proteins; D008565:Membrane Proteins; C109220:NBPhox protein; D049294:Phospholipid Transfer Proteins; D014157:Transcription Factors; C100879:UBE2K protein, human; D044763:Ubiquitin-Conjugating Enzymes; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase; D000251:Adenosine Triphosphatases; D008025:Ligases