title: UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.
abstract: The gene for ubiquitin hydrolase on the X chromosome (UHX1), cloned and mapped to Xp21.2-p11.2, is a candidate gene for retinal diseases. We used fine mapping techniques to localise UHX1 between markers DXS1266 and DXS337, where congenital stationary night blindness (XICSNB) and retinitis pigmentosa type 2 (RP2) are also located. Reevaluation of the UHX1 gene structure demonstrated five new exons, for a total of 21 exons and a predicted protein product of 963 amino acids. Evaluation of patients revealed no UHX1 mutations using SSCP (10 CSNB1 and 20 XLRP) or deletion screening with cDNA hybridisation (13 CSNB1 and 43 XLRP). Likewise, no aberrations were found in the nearby PCTAIRE1 (PCTK1) gene in 13 CSNB1 and 43 XLRP patients by deletion screening. Thus mutations of UHX1, and probably PCTK1, do not appear to cause common X-linked eye diseases. UHX1's role in patients with mental retardation may be appropriate for further investigations into UHX1 function.
authors.affiliation: Abteilung für Medizinische Genetik, Kinderpoliklinik der Universität, München, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Brandau
authors.forename: G
authors.initials: G
authors.lastname: Nyakatura
authors.forename: K B
authors.initials: KB
authors.lastname: Jedele
authors.forename: M
authors.initials: M
authors.lastname: Platzer
authors.forename: H
authors.initials: H
authors.lastname: Achatz
authors.forename: M
authors.initials: M
authors.lastname: Ross
authors.forename: J
authors.initials: J
authors.lastname: Murken
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: A
authors.initials: A
authors.lastname: Meindl
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D018844:Cyclin-Dependent Kinases; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005069:Evaluation Studies as Topic; D005819:Genetic Markers; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D013869:Thiolester Hydrolases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; C101359:USP11 protein, human; D017346:Protein Serine-Threonine Kinases; D018844:Cyclin-Dependent Kinases; C089463:PCTAIRE-1 protein kinase; D013869:Thiolester Hydrolases