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Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions

Abstract Background Human 15q11–13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These concertedly confer allele specificity on 15q11–13. Here, we report DNA...

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Uloženo v:
Hlavní autoři: Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2019-02-01
Edice:Clinical Epigenetics
Témata:
15q11–13
Prader-Willi syndrome
Angelman syndrome
Genome-wide methylation study
Deletion
On-line přístup:http://link.springer.com/article/10.1186/s13148-019-0633-1
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