title: Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
abstract: An integrated large-insert clone map of the region Xq11-q12 is presented. A physical map containing markers within a few hundred kilobases of the centromeric locus DXZ1 to DXS1125 spans nearly 5 Mb in two contigs separated by a gap estimated to be approximately 100-250 kb. The contigs combine 75 yeast artificial chromosome clones, 12 bacterial artificial chromosome clones, and 17 P1-derived artificial chromosome clones with 81 STS or EST markers. Overall marker density across this region is approximately 1 STS/60 kb. Mapped within the contigs are 12 ESTs as well as 5 known genes, moesin (MSN), hephaestin (HEPH), androgen receptor (AR), oligophrenin-1 (OPHN1), and Eph ligand-2 (EPLG2). Orientation of the contigs on the X chromosome, as well as marker order within the contigs, was unambiguously determined by reference to a number of X chromosome breakpoints. In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (CAI) or a contiguous gene syndrome that includes CAI, impaired vision, and mental retardation.
authors.affiliation: Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
authors.forename: M G
authors.initials: MG
authors.lastname: Schueler
authors.forename: A W
authors.initials: AW
authors.lastname: Higgins
authors.forename: R
authors.initials: R
authors.lastname: Nagaraja
authors.forename: D
authors.initials: D
authors.lastname: Tentler
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: K
authors.initials: K
authors.lastname: Gustashaw
authors.forename: H F
authors.initials: HF
authors.lastname: Willard
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D000818:Animals; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D020451:Contig Mapping / Q000379:methods*; D003582:Cytogenetics; D020224:Expressed Sequence Tags; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D016324:Sequence Tagged Sites; D014960:X Chromosome / Q000235:genetics*