The Prader–Willi Syndrome Imprinting Center Activates the Paternally Expressed Murine Ube3a Antisense Transcript but Represses Paternal Ube3a

Genomics ◽  
2001 ◽  
Vol 73 (3) ◽  
pp. 316-322 ◽  
Author(s):  
Stormy J. Chamberlain ◽  
Camilynn I. Brannan
Keyword(s):  
Antisense Transcript ◽  
Prader Willi Syndrome ◽  
Imprinting Center ◽  
Ube3a Antisense

scholarly journals An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34348 ◽  
Author(s):  
Mei-Yi Wu ◽  
Ming Jiang ◽  
Xiaodong Zhai ◽  
Arthur L. Beaudet ◽  
Ray-Chang Wu
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center ◽  
Maternal Imprinting

scholarly journals Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain

Epigenetics ◽  
2014 ◽  
Vol 9 (11) ◽  
pp. 1540-1556 ◽  
Author(s):  
Jason O Brant ◽  
Alberto Riva ◽  
James L Resnick ◽  
Thomas P Yang
Keyword(s):  
Dna Methylation ◽  
Mouse Brain ◽  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals Role of Histone Methyltransferase G9a in CpG Methylation of the Prader-Willi Syndrome Imprinting Center

2003 ◽  
Vol 278 (17) ◽  
pp. 14996-15000 ◽  
Author(s):  
Zhenghan Xin ◽  
Makoto Tachibana ◽  
Michele Guggiari ◽  
Edith Heard ◽  
Yoichi Shinkai ◽  
...  
Keyword(s):  
Histone Methyltransferase ◽  
Cpg Methylation ◽  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review

2018 ◽  
Vol 176 (4) ◽  
pp. 886-895 ◽  
Author(s):  
Samantha N. Hartin ◽  
Waheeda A. Hossain ◽  
Nicolette Weisensel ◽  
Merlin G. Butler
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center

2011 ◽  
Vol 20 (17) ◽  
pp. 3461-3466 ◽  
Author(s):  
A. J. DuBose ◽  
E. Y. Smith ◽  
T. P. Yang ◽  
K. A. Johnstone ◽  
J. L. Resnick
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals Angelman syndrome imprinting center encodes a transcriptional promoter

2014 ◽  
Vol 112 (22) ◽  
pp. 6871-6875 ◽  
Author(s):  
Michael W. Lewis ◽  
Jason O. Brant ◽  
Joseph M. Kramer ◽  
James I. Moss ◽  
Thomas P. Yang ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Angelman Syndrome ◽  
Paternal Allele ◽  
Specific Gene ◽  
Prader Willi Syndrome ◽  
Maternal Allele ◽  
Expression Of Genes ◽  
Imprinting Center ◽  
Maternal Contribution ◽  
Parent Of Origin

Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11–q13 is responsible for both Angelman syndrome (AS) and Prader–Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader–Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS–PWS locus. The PWS–smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS–SRO element generates maternal allele identity by epigenetically inactivating the PWS–SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS–SRO, the element necessary for maternal allele identity. We find that, in humans, the AS–SRO is an oocyte-specific promoter that generates transcripts that transit the PWS–SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription.

scholarly journals Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing

2019 ◽  
Vol 7 (4) ◽  
pp. e00575 ◽  
Author(s):  
Samantha N. Hartin ◽  
Waheeda A. Hossain ◽  
David Francis ◽  
David E. Godler ◽  
Sangjucta Barkataki ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Prader Willi Syndrome ◽  
Next Generation ◽  
Imprinting Center ◽  
Whole Exome

scholarly journals CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice

2021 ◽  
Author(s):  
Ralf S. Schmid ◽  
Xuefeng Deng ◽  
Priyalakshmi Panikker ◽  
Msema Msackyi ◽  
Camilo Breton ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Antisense Transcript ◽  
Ube3a Antisense
Sign in / Sign up

Export Citation Format

Share Document