DDX11L: a novel transcript family emerging from human subtelomeric regions.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Costa, Valerio; Casamassimi, Amelia; Roberto, Roberta; Gianfrancesco, Fernando; Matarazzo, Maria R; d'Urso, Michele; D'Esposito, Maurizio; Rocchi, Mariano; Ciccodicola, Alfredo
Year of Publication: 2009
Journal: BMC Genomics
Volume: 10
Pagination: 250
Date Published: 2009
Publication Language: eng
ISSN: 1471-2164
Keywords: Animals, Chromosome Mapping, Chromosomes, Human, Expressed Sequence Tags, Genome, Human, Humans, In Situ Hybridization, Fluorescence, Multigene Family, Primates, Sequence Alignment, Sequence Analysis, DNA, Telomere

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.

DOI: 10.1186/1471-2164-10-250
Alternate Journal: BMC Genomics