Characterization ofCxorf5(71-7A), a Novel Human cDNA Mapping to Xp22 and Encoding a Protein Containing Coiled-Coil α-Helical Domains

doi:10.1006/geno.1998.5348

Genomics

Volume 51, Issue 2, 15 July 1998, Pages 243-250

https://doi.org/10.1006/geno.1998.5348 Get rights and content

Abstract

The human X chromosome is known to contain several disease genes yet to 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, alias71-7A), previously mapped to this region but for which no sequence information was available. We isolated and sequenced the full-length transcript, which encodes a predicted protein of unknown function containing a large number of coiled-coil domains, typically present in a variety of different molecules, from fibrous proteins to transcription factors. We showed that theCxorf5cDNA is ubiquitously expressed, undergoesalternative splicing, and escapes X inactivation. Furthermore, we precisely mapped two additionalCxorf5-related loci on the Y chromosome and on chromosome 5. By virtue of its mapping assignment to the Xp22 region,Cxorf5represents a candidate gene for at least four human diseases, namely spondyloepiphiseal dysplasia late, oral-facial-digital syndrome type 1, craniofrontonasal syndrome, and a nonsyndromic sensorineural deafness.

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Cited by (0)

^☆: Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. Y15164 and Y16355.

^f2: Died in the course of this work.

¹: Present address: MGC-Department of Human Genetics, Leiden University, Wassenaarseweg 72, 2333 A1 Leiden, The Netherlands.

²: To whom correspondence should be addressed at Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Via Olgettina 58, 20132 Milan, Italy, Telephone:-39-2-215601. Fax: -39-2-21560220. E-mail:[email protected].

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Regular ArticleCharacterization ofCxorf5(71-7A), a Novel Human cDNA Mapping to Xp22 and Encoding a Protein Containing Coiled-Coil α-Helical Domains☆

Abstract

Genomics

J. Mol. Biol.

Gene

Cell

Gapped BLAST and PSI-BLAST: A new generation of protein database search programs

Nucleic Acids Res.

The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosomes and is highly conserved in primates

Genomics

Identification and mapping of human cDNAs homologous toDrosophila

Nat. Genet.

Characterization of a murine gene expressed from the inactive X chromosome

Nature

X-chromosome inactivation of the human TIMP gene

Nucleic Acids Res.

Localization of DNA sequences in region Xp21 of the human X chromosome: Search for molecular markers close to the Duchenne muscular dystrophy locus

Am. J. Hum. Genet.

A novel locus for non-syndromic sensorineural deafness(DFN6)

Hum. Mol. Genet.

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome

Am. J. Med. Genet.

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2–Xp22.3

Hum. Mol. Genet.

A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22

Hum. Mol. Genet.

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

Hum. Mol. Genet.

The human Y chromosome: Overlapping DNA clones spanning the euchromatic region

Science

Regular Article
Characterization ofCxorf5(71-7A), a Novel Human cDNA Mapping to Xp22 and Encoding a Protein Containing Coiled-Coil α-Helical Domains☆