scholarly journals Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

2006 ◽  
Vol 79 (2) ◽  
pp. 370-377 ◽  
Author(s):  
Tjitske Kleefstra ◽  
Han G. Brunner ◽  
Jeanne Amiel ◽  
Astrid R. Oudakker ◽  
Willy M. Nillesen ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Loss Of Function ◽  
Methyl Transferase ◽  
Subtelomeric Deletion ◽  
Histone Methyl Transferase

scholarly journals Behavioural consequences of Setd1a haploinsufficiency in mice: evidence for heightened emotional reactivity and impaired sensorimotor gating

2021 ◽  
Author(s):  
Matthew L. Bosworth ◽  
Anthony R. Isles ◽  
Lawrence S. Wilkinson ◽  
Trevor Humby
Keyword(s):  
Neurodevelopmental Disorders ◽  
Emotional Reactivity ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Sensorimotor Gating ◽  
Neural Systems ◽  
Loss Of Function ◽  
Methyl Transferase ◽  
Genes Encoding ◽  
Histone Methyl Transferase

ABSTRACTA number of studies implicate the loss of function (LoF) mutations affecting the histone methyl transferase SETD1A in the aetiology of a range of neurodevelopmental disorders including schizophrenia. Here, we examined the behavioural consequences of haploinsufficiency of Setd1a in a mouse model. We find evidence for changes in a number of phenotypes of relevance to schizophrenia, including increased anxiety-related behaviour, enhanced acoustic startle response, and decreased pre-pulse inhibition of acoustic startle. The sensorimotor gating deficits in Setd1a+/- mice could not be rescued by haloperidol or risperidone, suggesting that these antipsychotics are ineffective for ameliorating schizophrenia-relevant phenotypes in Setd1a+/- mice and point to deficits in neural systems other than the monoamine system. These phenotypes are emerging as key features of a number of other mouse models of rare neurodevelopmental disorders caused by LoF mutations in genes encoding epigenome modifiers suggesting they may act in a network to modulate brain development. Taken together these data strengthen the support for the use of Setd1a haploinsufficient mice as a model for the biological basis of schizophrenia, and point towards possible underpinning neural mechanisms.

scholarly journals Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Pricila da Silva Cunha ◽  
Heloisa B. Pena ◽  
Carla Sustek D’Angelo ◽  
Celia P. Koiffmann ◽  
Jill A. Rosenfeld ◽  
...  
Keyword(s):  
Real Time ◽  
Diagnostic Test ◽  
Quantitative Pcr ◽  
Target Genes ◽  
Cost Effective ◽  
Qpcr Assay ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Real Time Quantitative Pcr ◽  
Subtelomeric Deletion

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of being a high-cost technique. However, patients with classic monosomy 1p36 share some typical clinical characteristics that, together with its common prevalence, justify the development of a less expensive, targeted diagnostic method. In this study, we developed a simple, rapid, and inexpensive real-time quantitative PCR (qPCR) assay for targeted diagnosis of monosomy 1p36, easily accessible for low-budget laboratories in developing countries. For this, we have chosen two target genes which are deleted in the majority of patients with monosomy 1p36:PRKCZandSKI. In total, 39 patients previously diagnosed with monosomy 1p36 by aCGH, fluorescentin situhybridization (FISH), and/or multiplex ligation-dependent probe amplification (MLPA) all tested positive on our qPCR assay. By simultaneously using these two genes we have been able to detect 1p36 deletions with 100% sensitivity and 100% specificity. We conclude that qPCR ofPRKCZandSKIis a fast and accurate diagnostic test for monosomy 1p36, costing less than 10 US dollars in reagent costs.

scholarly journals Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome

2007 ◽  
Vol 61 (10) ◽  
pp. 1135-1140 ◽  
Author(s):  
Anne S. Bassett ◽  
Oana Caluseriu ◽  
Rosanna Weksberg ◽  
Donald A. Young ◽  
Eva W.C. Chow
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Methyl Transferase

scholarly journals A novel 5q35.3 subtelomeric deletion syndrome

2003 ◽  
Vol 121A (1) ◽  
pp. 1-8 ◽  
Author(s):  
Anita Rauch ◽  
Maike Beese ◽  
Ertan Mayatepek ◽  
Helmut-Günther Dörr ◽  
Dieter Wenzel ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Subtelomeric Deletion

SIRT1 regulates the histone methyl-transferase SUV39H1 during heterochromatin formation

Nature ◽  
2007 ◽  
Vol 450 (7168) ◽  
pp. 440-444 ◽  
Author(s):  
Alejandro Vaquero ◽  
Michael Scher ◽  
Hediye Erdjument-Bromage ◽  
Paul Tempst ◽  
Lourdes Serrano ◽  
...  
Keyword(s):  
Methyl Transferase ◽  
Heterochromatin Formation ◽  
Histone Methyl Transferase
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