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Open Access Research article

DDX11L: a novel transcript family emerging from human subtelomeric regions

Valerio Costa1, Amelia Casamassimi12, Roberta Roberto3, Fernando Gianfrancesco1, Maria R Matarazzo1, Michele D'Urso1, Maurizio D'Esposito1, Mariano Rocchi3 and Alfredo Ciccodicola1*

Author Affiliations

1 Institute of Genetics and Biophysics "A. Buzzati-Traverso" (IGB), CNR, 80131 Naples, Italy

2 Current address: Department of General Pathology, Second University of Naples, 80138 Naples, Italy

3 Department of Genetics and Microbiology, University of Bari, 70126 Bari, Italy

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BMC Genomics 2009, 10:250  doi:10.1186/1471-2164-10-250

Published: 28 May 2009

Abstract

Background

The subtelomeric regions of human chromosomes exhibit an extraordinary plasticity. To date, due to the high GC content and to the presence of telomeric repeats, the subtelomeric sequences are underrepresented in the genomic libraries and consequently their sequences are incomplete in the finished human genome sequence, and still much remains to be learned about subtelomere organization, evolution and function. Indeed, only in recent years, several studies have disclosed, within human subtelomeres, novel gene family members.

Results

During a project aimed to analyze genes located in the telomeric region of the long arm of the human X chromosome, we have identified a novel transcript family, DDX11L, members of which map to 1pter, 2q13/14.1, 2qter, 3qter, 6pter, 9pter/9qter, 11pter, 12pter, 15qter, 16pter, 17pter, 19pter, 20pter/20qter, Xpter/Xqter and Yqter. Furthermore, we partially sequenced the underrepresented subtelomeres of human chromosomes showing a common evolutionary origin.

Conclusion

Our data indicate that an ancestral gene, originated as a rearranged portion of the primate DDX11 gene, and propagated along many subtelomeric locations, is emerging within subtelomeres of human chromosomes, defining a novel gene family. These findings support the possibility that the high plasticity of these regions, sites of DNA exchange among different chromosomes, could trigger the emergence of new genes.