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Task D-008 · Type D — Disease → mechanism
Why does Angelman syndrome result specifically from loss of the MATERNAL UBE3A allele rather than either parental copy?
Difficulty
medium
Rarity stratum
medium
Evidence type
primary_research + review
MONDO ID
MONDO:0007113
Curator notes
Requires the specific genomic-imprinting fact that the paternal UBE3A allele is epigenetically silenced by the UBE3A-ATS antisense transcript specifically in neurons — a generic "one copy is lost" answer would miss the actual mechanism this task is testing for.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000377
Claims
3
Supported
1
Contradicted
2
Unverifiable
0
Gold documents (2)
- Ube3a unsilencer for the potential treatment of Angelman syndrome.
- Angelman syndrome: a journey through the brain.
Retrieved documents (6)
- Precision Medicine in Angelman Syndrome.pubmed:39168152
- Genotype-Phenotype Correlations in Angelman Syndrome.pubmed:34203304
- Angelman Syndrome: Identification and Management.pubmed:28494826
- Angelman Syndrome: Multidisciplinary Management.pubmed:40643417
- Ube3a unsilencer for the potential treatment of Angelman syndrome.pubmed:38977672gold
- Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.pubmed:38327047
Generated claims (3)
supportedconfidence 0.95
Angelman syndrome results from the loss of the maternal UBE3A allele.
pubmed:34203304pubmed:38977672pubmed:38327047pubmed:28494826
contradictedconfidence 0.90
The paternal UBE3A allele is epigenetically silenced in neurons by the UBE3A-ATS transcript.
pubmed:38977672pubmed:38327047
contradictedconfidence 0.90
This epigenetic silencing of the paternal UBE3A allele means that only the maternal copy is expressed in neurons, leading to Angelman syndrome when it is lost.
pubmed:38977672pubmed:38327047