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 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, alias 71-7A), 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-coild domains, typically presented in a variety of different molecules, from fibrous proteins to transcription factors. We showed that the Cxorf5 cDNA is ubiquitously expressed, undergoes alternative splicing, and escapes X inactivation. Furthermore, we precisely mapped two additional Cxorf5-related loci on the Y chromosome and on chromosome 5. By virtue of its mapping assignment to the Xp22 region, Cxorf5 represents 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.
de Conciliis
L
L
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Marchitiello
A
A
Wapenaar
M C
MC
Borsani
G
G
Giglio
S
S
Mariani
M
M
Consalez
G G
GG
Zuffardi
O
O
Franco
B
B
Ballabio
A
A
Banfi
S
S
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D009928:Organ Specificity; D020161:Physical Chromosome Mapping; D017433:Protein Structure, Secondary; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D017422:Sequence Analysis, DNA; D014960:X Chromosome / Q000235:genetics*
D018076:DNA, Complementary; C115130:OFD1 protein, human; D011506:Proteins; D012333:RNA, Messenger