title: Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.
abstract: We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.
authors.affiliation: Biochemistry Department, University of Oxford, United Kingdom.
authors.forename: S E
authors.initials: SE
authors.lastname: Fisher
authors.forename: E
authors.initials: E
authors.lastname: Hatchwell
authors.forename: A
authors.initials: A
authors.lastname: Chand
authors.forename: N
authors.initials: N
authors.lastname: Ockenden
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000818:Animals; D001483:Base Sequence; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics; D016133:Polymerase Chain Reaction; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D011544:Pseudogenes; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D014157:Transcription Factors / Q000235:genetics; D014960:X Chromosome
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D017931:DNA Primers; D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; C069203:TFE3 protein, human; D014157:Transcription Factors; D009953:Ornithine-Oxo-Acid Transaminase; C516724:PTPN11 protein, human; C509249:PTPN6 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases