A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia.
Eur J Hum Genet
; 26(6): 886-897, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29476164
ABSTRACT
Copy number variations (CNVs) are genomic structural variations that result from the deletion or duplication of large genomic segments. The characterization of CNVs is largely underrepresented, particularly those of indigenous populations, such as the Orang Asli in Peninsular Malaysia. In the present study, we first characterized the genome-wide CNVs of four major native populations from Peninsular Malaysia, including the Malays and three Orang Asli populations; namely, Proto-Malay, Senoi, and Negrito (collectively called PM). We subsequently assessed the distribution of CNVs across the four populations. The resulting global CNV map revealed 3102 CNVs, with an average of more than 100 CNVs per individual. We identified genes harboring CNVs that are highly differentiated between PM and global populations, indicating that these genes are predominantly enriched in immune responses and defense functions, including APOBEC3A_B, beta-defensin genes, and CCL3L1, followed by other biological functions, such as drug and toxin metabolism and responses to radiation, suggesting some attributions between CNV variations and adaptations of the PM groups to the local environmental conditions of tropical rainforests.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Antígenos de Histocompatibilidade Menor
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Quimiocinas CC
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Citidina Desaminase
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Variações do Número de Cópias de DNA
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Genética Populacional
Limite:
Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article