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

Eur J Hum Genet. Sep-Oct 1998;6(5):459-66. doi: 10.1038/sj.ejhg.5200207.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping*
  • Cyclin-Dependent Kinases*
  • DNA Mutational Analysis
  • DNA Primers
  • Evaluation Studies as Topic
  • Genetic Markers
  • Humans
  • Protein-Serine-Threonine Kinases / genetics*
  • Retinal Diseases / genetics*
  • Thiolester Hydrolases / genetics*
  • X Chromosome*


  • DNA Primers
  • Genetic Markers
  • USP11 protein, human
  • Protein-Serine-Threonine Kinases
  • Cyclin-Dependent Kinases
  • PCTAIRE-1 protein kinase
  • Thiolester Hydrolases