Naslov
A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma

Autori
Franzoni, Alessandra ; Markova-Car, Elitza ; Dević-Pavlić, Sanja ; Jurišić, Davor ; Puppin, Cinzia ; Mio, Catia ; De Luca, Marila ; Petruz, Giulia ; Damante, Giuseppe ; Kraljević Pavelić, Sandra

Izvornik
Experimental biology and medicine (1535-3702) 242 (2017), 15; 1553-1558

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
NPAS2 ; clock genes ; melanoma ; microsatellite repeats

Sažetak
Circadian clock regulation in mammals is controlled by feedback loops of a set of circadian genes. One of these circadian genes, NPAS2, encodes for a member of the bHLH-PAS class of transcription factors and is expressed in the forebrain and in some peripheral organs such as liver and skin. Other biological processes are also regulated by circadian genes. For example, NPAS2 is involved in cell proliferation, DNA damage repair and malignant transformation. Aberrant expression of clock genes has been previously observed in melanoma which led to our effort to sequence the NPAS2 promoter region in this cancer type. The NPAS2 putative promoter and 5′ untranslated region of ninety-three melanoma patients and ninety-six control subjects were sequenced and several variants were identified. Among these is a novel microsatellite comprising a GGC repeat with different alleles ranging from 7 to 13 repeats located in the 5′ untranslated exon. Homozygosity of an allele with nine repeats (9/9) was more prevalent in melanoma than in control subjects (22.6% and 13.5%, respectively, P: 0.0206) suggesting that some NPAS2 variants might contribute to melanoma susceptibility.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Biotehnologija

Napomena
The first two authors contributed equally to this paper.

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