CHARACTERIZATION OF CXORF5 (71-7A), A NOVEL HUMAN CDNA MAPPING TO XP22 AND ENCODING A PROTEIN CONTAINING COILED-COIL ALPHA-HELICAL DOMAINS

The human X chromosome is known to contain several disease genes yet t o be cloned, In the course of a project aimed at the construction of a transcription map of the Xp22 region, we fully characterized a novel cDNA, Cxorf5 (HGMW-approved symbol, alias 71-7A), previously mapped to this region but for which no sequence information was available. We i solated and sequenced the full-length transcript, which encodes a pred icted protein of unknown function containing a large number of coiled- coil domains, typically present in a variety of different molecules, f rom fibrous proteins to transcription factors, We showed that the Cxor f5 cDNA is ubiquitously expressed, undergoes alternative splicing, and escapes X inactivation. Furthermore, we precisely mapped two addition al Cxorf5-related loci on the Y chromosome and on chromosome 5, By vir tue of its mapping assignment to the Xp22 region, Cxorf5 represents a candidate gene for at least four human diseases, namely spondyloepiphi seal dysplasia late, oral-facial-digital syndrome type 1, cranio-front onasal syndrome, and a nonsyndromic sensorineural deafness. (C) 1998 A cademic Press.