title: Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient.
abstract: The gene responsible for Menkes syndrome has been assigned to Xq13 by a combination of comparative mapping and linkage analysis. A previous report has mapped the translocation breakpoint associated with the disease in a female patient to an interval delimited by PGK1 and a group of six more proximal Xq13 markers, including DXS56. We have characterized a number of PGK1- or DXS56-positive YACs, from which we have generated six new markers. One of them identifies a small overlap region between a PGK1-positive YAC and three DXS56-positive YACs, distal to the Menkes breakpoint. A 560-kb region covered by a DXS56-positive YAC has been restriction-mapped and subcloned, disclosing a 187-kb MluI fragment astride the breakpoint. A probe mapping distal to the rearrangement in the same interval reveals altered PGFE fragments in a hybrid constructed from the translocation patient's DNA. We describe the development of a cosmid contig extending 150 kb from a nearby CpG island across the breakpoint. This contig includes four adjacent clones displaying cross-specific hybridization.
authors.affiliation: Laboratory of Molecular Genetics and Cytogenetics, Istituto G. Gaslini, Genova Quarto, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Giacomo Consalez
authors.forename: J
authors.initials: J
authors.lastname: Gecz
authors.forename: C L
authors.initials: CL
authors.lastname: Stayton
authors.forename: B
authors.initials: B
authors.lastname: Dabovic
authors.forename: B
authors.initials: B
authors.lastname: Pasini
authors.forename: A
authors.initials: A
authors.lastname: Pezzolo
authors.forename: M P
authors.initials: MP
authors.lastname: Bicocchi
authors.forename: M
authors.initials: M
authors.lastname: Fontes
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002460:Cell Line; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D003360:Cosmids; D004277:DNA, Single-Stranded; D005260:Female; D015723:Gene Library; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D014960:X Chromosome
chemical_list: D004277:DNA, Single-Stranded; D005819:Genetic Markers