Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains

Lisa De Conciliis, Anna Marchitiello, Martin C. Wapenaar, Giuseppe Borsani, Sabrina Giglio, Margherita Mariani, Gian Giacomo Consalez, Orsetta Zuffardi, Brunella Franco, Andrea Ballabio, Sandro Banfi

Research output: Contribution to journalArticle

41 Citations (Scopus)

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, 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-coil domains, typically present 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.

Original languageEnglish
Pages (from-to)243-250
Number of pages8
JournalGenomics
Volume51
Issue number2
DOIs
Publication statusPublished - Jul 15 1998

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Orofaciodigital Syndromes
Complementary DNA
Scleroproteins
Chromosomes, Human, X
X Chromosome Inactivation
Chromosomes, Human, Pair 5
Y Chromosome
Alternative Splicing
Genes
Proteins
Transcription Factors
Nonsyndromic Deafness
Craniofrontonasal dysplasia

ASJC Scopus subject areas

  • Genetics

Cite this

De Conciliis, L., Marchitiello, A., Wapenaar, M. C., Borsani, G., Giglio, S., Mariani, M., ... Banfi, S. (1998). Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains. Genomics, 51(2), 243-250. https://doi.org/10.1006/geno.1998.5348

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains. / De Conciliis, Lisa; Marchitiello, Anna; Wapenaar, Martin C.; Borsani, Giuseppe; Giglio, Sabrina; Mariani, Margherita; Consalez, Gian Giacomo; Zuffardi, Orsetta; Franco, Brunella; Ballabio, Andrea; Banfi, Sandro.

In: Genomics, Vol. 51, No. 2, 15.07.1998, p. 243-250.

Research output: Contribution to journalArticle

De Conciliis, L, Marchitiello, A, Wapenaar, MC, Borsani, G, Giglio, S, Mariani, M, Consalez, GG, Zuffardi, O, Franco, B, Ballabio, A & Banfi, S 1998, 'Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains', Genomics, vol. 51, no. 2, pp. 243-250. https://doi.org/10.1006/geno.1998.5348
De Conciliis, Lisa ; Marchitiello, Anna ; Wapenaar, Martin C. ; Borsani, Giuseppe ; Giglio, Sabrina ; Mariani, Margherita ; Consalez, Gian Giacomo ; Zuffardi, Orsetta ; Franco, Brunella ; Ballabio, Andrea ; Banfi, Sandro. / Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains. In: Genomics. 1998 ; Vol. 51, No. 2. pp. 243-250.
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