title: Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig.
abstract: Incontinentia pigmenti (IP) is an X-linked dominant disorder of neuroectodermal development. Based on the observation of six unrelated females with clinical features of nonfamilial IP with constitutional de novo reciprocal X;autosome translocations, a putative incontinentia pigmenti type 1 locus (IP1; MIM No. 308300) was localized to region Xp11.21. Using available regional DNA markers, we constructed a yeast artificial chromosome (YAC) contig that contained 1.2 Mb of distal Xp11.21 and spanned two IP1 X-chromosomal breakpoints. This contig was used to generate a detailed molecular map of the region and identify three regional CpG islands. YAC-derived cosmids were used to clone and map the IP1 breakpoints to a 180-kb interval that was flanked by DNA markers DXS705 and DXS741. The physical map and genomic clones should facilitate the isolation and characterization of transcripts associated with the IP1 translocation breakpoints.
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, Michigan, 48109-0688, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Gorski
authors.forename: M D
authors.initials: MD
authors.lastname: Bialecki
authors.forename: M T
authors.initials: MT
authors.lastname: McDonald
authors.forename: H F
authors.initials: HF
authors.lastname: Massa
authors.forename: B J
authors.initials: BJ
authors.lastname: Trask
authors.forename: E N
authors.initials: EN
authors.lastname: Burright
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002882:Chromosomes, Human, Pair 13; D002899:Chromosomes, Human, Pair 9; D003360:Cosmids; D017931:DNA Primers; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D005819:Genetic Markers