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2015 ; 112
(22
): 6871-5
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Angelman syndrome imprinting center encodes a transcriptional promoter
#MMPMID25378697
Lewis MW
; Brant JO
; Kramer JM
; Moss JI
; Yang TP
; Hansen PJ
; Williams RS
; Resnick JL
Proc Natl Acad Sci U S A
2015[Jun]; 112
(22
): 6871-5
PMID25378697
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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.
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