Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes.
Ann Hum Biol
; 42(5): 485-93, 2015.
Article
em En
| MEDLINE
| ID: mdl-25343474
ABSTRACT
BACKGROUND:
Copy Number Variants (CNVs) contribute to a large fraction of genetic diversity and some of them have been reported to offer an evolutionary advantage.AIM:
To identify CNVs in pigmentary loci that could contribute to human skin pigmentation diversity. SUBJECTS ANDMETHODS:
This study assessed the existence of CNVs in every exon of candidate genes TYR, TYRP1, DCT, MC1R and SLC24A5, using the Multiplex Amplifiable Probe Hybridization technique (MAPH). This study analysed a total of 99 DNA samples of unrelated individuals from different populations. Validation and further analysis in a larger Spanish sample were performed by RT-qPCR.RESULTS:
Five CNVs were identified by MAPH DCT exons 4 and 8, TYR exon 1 and SLC24A5 exons 1 and 4. Real-time quantitative PCR (RT-qPCR) confirmed the CNV in exon 1 of SLC24A5. This study further analysed the 5' promoter region of SLC24A5 and found another CNV in this region. However, no association was found between the CNV and the degree of pigmentation.CONCLUSION:
Although the functional role of these structural variants in pigmentation should be the subject of future work, the results emphasize the need to consider all classes of variation (both SNPs and CNVs) when exploring the genetics of skin pigmentation.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pigmentação da Pele
/
Dosagem de Genes
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Variações do Número de Cópias de DNA
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Melanócitos
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Hum Biol
Ano de publicação:
2015
Tipo de documento:
Article