Genomic imprinting and communicative behaviour: Prader-Willi and Angelman syndrome

2009 ◽  
Vol 65 (3) ◽  
pp. 78-88 ◽  
Author(s):  
Harry Smit
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome

scholarly journals Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

1992 ◽  
Vol 29 (12) ◽  
pp. 853-857 ◽  
Author(s):  
E J Meijers-Heijboer ◽  
L A Sandkuijl ◽  
H G Brunner ◽  
H J Smeets ◽  
A J Hoogeboom ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Genomic Imprinting ◽  
Angelman Syndrome

scholarly journals Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

2011 ◽  
Vol 34 (6) ◽  
pp. 293-303 ◽  
Author(s):  
Angela M. Mabb ◽  
Matthew C. Judson ◽  
Mark J. Zylka ◽  
Benjamin D. Philpot
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?

2007 ◽  
Vol 48 (6) ◽  
pp. 571-579 ◽  
Author(s):  
Chris Oliver ◽  
Kate Horsler ◽  
Katy Berg ◽  
Gail Bellamy ◽  
Katie Dick ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting

1990 ◽  
Vol 35 (3) ◽  
pp. 350-353 ◽  
Author(s):  
C. A. Williams ◽  
R. T. Zori ◽  
J. W. Stone ◽  
B. A. Gray ◽  
E. S. Cantu ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome ◽  
Maternal Origin

scholarly journals Prader-Willi syndrome: reflections on seminal studies and future therapies

Open Biology ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 200195
Author(s):  
Michael S. Chung ◽  
Maéva Langouët ◽  
Stormy J. Chamberlain ◽  
Gordon G. Carmichael
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome ◽  
Cpg Island ◽  
Uniparental Disomy ◽  
Large Deletion ◽  
Paternal Allele ◽  
Prader Willi Syndrome ◽  
Loss Of Function ◽  
Maternal Uniparental Disomy ◽  
Parental Allele

Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic imprinting of the 15q11-q13 locus is established in the germline and is largely controlled by a bipartite imprinting centre. One part, termed the Prader-Willi syndrome imprinting center (PWS-IC), comprises a CpG island that is unmethylated on the paternal allele and methylated on the maternal allele. The second part, termed the Angelman syndrome imprinting centre, is required to silence the PWS_IC in the maternal germline. The loss of the paternal contribution of the imprinted 15q11-q13 locus most frequently occurs owing to a large deletion of the entire imprinted region but can also occur through maternal uniparental disomy or an imprinting defect. While PWS is considered a contiguous gene syndrome based on large-deletion and uniparental disomy patients, the lack of expression of only non-coding RNA transcripts from the SNURF-SNRPN/SNHG14 may be the primary cause of PWS. Patients with small atypical deletions of the paternal SNORD116 cluster alone appear to have most of the PWS related clinical phenotypes. The loss of the maternal contribution of the 15q11-q13 locus causes a separate and distinct condition called Angelman syndrome. Importantly, while much has been learned about the regulation and expression of genes and transcripts deriving from the 15q11-q13 locus, there remains much to be learned about how these genes and transcripts contribute at the molecular level to the clinical traits and developmental aspects of PWS that have been observed.

scholarly journals Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups

2021 ◽  
Vol 15 ◽  
Author(s):  
Mary Heald ◽  
Dawn Adams ◽  
Emily Walls ◽  
Christopher Oliver
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome ◽  
Single Case ◽  
Genetic Difference ◽  
Uniparental Disomy ◽  
Social Contact ◽  
Behavioral Phenotype ◽  
Striking Difference ◽  
Sensory Stimuli ◽  
Genetic Subtypes

Angelman syndrome (AS) is caused by loss of information from the 15q11.2-13 region on the maternal chromosome with striking phenotypic difference from Prader–Willi syndrome in which information is lost from the same region on the paternal chromosome. Motivation for social contact and sensory seeking behaviors are often noted as characteristics of the phenotype of AS and it has been argued that the strong drive for social contact supports a kinship theory interpretation of genomic imprinting. In this study we developed an experimental paradigm for quantifying the motivation for social contact in AS and examined differences across the genetic subtypes that cause AS [deletion, imprinting centre defect (ICD), uniparental disomy and UBE3A mutation]. Using single case experimental designs we examined the rate of acquisition of behavioral responses using operant learning paradigms for 21 children with AS whilst systematically varying the nature of social and sensory reinforcement. Variability in rates of acquisition was influenced by the nature of rewarding stimuli. Across the total sample both sensory stimuli and social contact could increase the rate of rewarded behavior with difference between children in the most effective reward. A striking difference in the rewarding properties of social contact across genetic subtypes was evidenced by non-deletion genetic causes of AS showing significantly higher rates of responding than the deletion cause in the social reinforcement paradigm. The results indicate that reinforcer assessment can beneficially inform behavioral interventions and that within syndrome variability in the behavioral phenotype of AS is likely driven by genetic difference. The non-deletion cause of AS, and particularly the ICD group, may be the optimal group for further study of genomic imprinting.

scholarly journals Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

2010 ◽  
Vol 30 (30) ◽  
pp. 9958-9963 ◽  
Author(s):  
S. J. Chamberlain ◽  
M. Lalande
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome ◽  
Imprinting Disorder ◽  
The Brain

scholarly journals Response to vocal music in Angelman syndrome contrasts with Prader-Willi syndrome

2018 ◽  
Author(s):  
Jennifer Kotler ◽  
Samuel A Mehr ◽  
Alena Egner ◽  
David Haig ◽  
Max Krasnow
Keyword(s):  
Genomic Imprinting ◽  
Angelman Syndrome ◽  
Parental Investment ◽  
Genetic Relatedness ◽  
Phenotypic Expression ◽  
Music Listening ◽  
Prader Willi Syndrome ◽  
Honest Signal ◽  
Psychological Phenomena ◽  
Kinship Theory

Parent-offspring conflict, or the conflict over resources between parents and their children due to differences in genetic relatedness, is the biological foundation for a variety of psychological phenomena, including sibling rivalry and child abuse. This form of conflict is particularly relevant to the domain of parental investment: the provisioning of resources to offspring by parents and alloparents. The kinship theory of genomic imprinting is the primary evolutionary explanation for the occurrence of specialized genetic expression in chromosomal domains relevant to phenotypic expression of parent-offspring conflict. Specifically, complementary parental contributions in the same region of the genome promote opposing parental demand behaviors. This theory predicts that people with genomic imprinting disorders will show alterations in traits and behaviors related to parental investment. In this paper, we apply this prediction to the psychological resource of parental attention, for which vocalizations in general, and music in particular, may be an honest signal. Individuals with Prader-Willi syndrome show increased physiological responses to music listening consistent with a reduced demand for parental investment. Here we report the complementary pattern necessary to support the theory: we find that individuals with Angelman syndrome demonstrate a relatively reduced physiological response to music, consistent with an increased demand for parental investment. In addition to presenting evidence of the value of applying the kinship theory of genomic imprinting to psychological phenomena, these data provide a comprehensive test of the theory that at least one aspect of human musical psychology evolved to mediate conflict over attentional demands between parents and offspring.

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