Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

Carol L. Stayton, Branka Dabovic, Massimo Gulisano, Jozef Gecz, Vania Broccoli, Serenella Giovanazzi, Michela Bossolasco, Lucia Monaco, Sohaila Rastan, Edoardo Boncinelli, Marco E. Bianchi, G. Giacomo Consalez

Research output: Contribution to journalArticlepeer-review


We describe the cloning and characterization of a new human Xq13 gene (XH2), extending over a 220 kb genomic stretch between MNK and DXS56. The gene, which undergoes X-inactivation, contains a 4 kb open reading frame and encodes a putative NTP-binding nuclear protein homologous to several members of the helicase II superfamily. The murine homologue maps to the syntenic genetic interval, between Pgk1 and Xist. In situ hybridization studies in mouse reveal precocious, widespread expression of the murine homologue of XH2 at early stages of embryogenesis, and more restricted expression during late developmental stages and at birth. XH2 is a new member of an expanding family of proven and putative helicases, sharing six conserved, collinear domains. In particular, the XH2 protein shows homology with yeast RAD54. Type II helicases have been implicated in nucleotide excision repair and the initiation of transcription. This new gene, represents a potential candidate for several genetic disorders mapped to human Xq13.

Original languageEnglish
Pages (from-to)1957-1964
Number of pages8
JournalHuman Molecular Genetics
Issue number11
Publication statusPublished - Nov 1994

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)


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