Imprinting centers, chromatin structure, and disease

Soejima, Hidenobu; Wagstaff, Joseph

doi:10.1002/jcb.20443

Cited by 39 publications

(21 citation statements)

References 53 publications

(54 reference statements)

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“…Angelman syndrome and PraderWilli syndrome result from deletions in chromosome 15q11-q13 [for reviews see Dykens et al, 2004;Soejima and Wagstaff, 2005]. Deletion of the maternal chromosome in this region results in Angelman syndrome, which is characterized by severe mental retardation, epilepsy, a puppet-like gait, and lack of speech.…”

Section: Decreased Gaba a Receptor Binding In Angelman Syndrome And Pmentioning

confidence: 99%

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities

Sundaram

Chugani

2005

Ment. Retard. Dev. Disabil. Res. Rev.

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Positron emission tomography (PET) is a technique that enables imaging of the distribution of radiolabeled tracers designed to track biochemical and molecular processes in the body after intravenous injection or inhalation. New strategies for the use of radiolabeled tracers hold potential for imaging gene expression in the brain during development and following interventions. In addition, PET may be key in identifying the physiological consequences of gene mutations associated with mental retardation. The development of high spatial resolution microPET scanners for imaging of rodents provides a means for longitudinal study of transgenic mouse models of genetic disorders associated with mental retardation. In this review, we describe PET methodology, illustrate how PET can be used to delineate biochemical changes during brain development, and provide examples of how PET has been applied to study brain glucose metabolism in Rett syndrome, serotonin synthesis in autism, and GABAA receptors in Angelman's syndrome and Prader-Willi syndrome. Future application of PET scanning in the study of mental retardation might include measurements of brain protein synthesis in fragile X syndrome and tuberous sclerosis complex, two common conditions associated with mental retardation in which cellular mechanisms involve dysregulation of protein synthesis. Mental retardation results in life-long disability, and application of new PET technologies holds promise for a better understanding of the biological underpinnings of mental retardation, with the potential to uncover new treatment options.

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Section: Decreased Gaba a Receptor Binding In Angelman Syndrome And Pmentioning

confidence: 99%

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities

Sundaram

Chugani

2005

Ment. Retard. Dev. Disabil. Res. Rev.

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“…Genomic imprinting refers to an epigenetic effect that causes a differential expression of a gene, depending on the sex of the transmitting parent. The imprinting process, exemplified by the Prader-Willi syndrome [24], allows gene expression from only the maternally or paternally derived chromosome. However, this process remains to be further confirmed.…”

Section: Discussionmentioning

confidence: 99%

Familial Aggregation of Skin Sensitization to Aeroallergens in a Rural Area in China

Jin

Wang²,

Xu³

et al. 2008

Int Arch Allergy Immunol

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Background: The prevalence of allergic sensitization has increased all over the world during last years and allergic sensitization may be related to genetic or environmental factors or to both. The objective of this study was to estimate the prevalence rates of allergic sensitization and assess the familial aggregation of allergic sensitization to aeroallergens in asthma index families. Methods: The skin prick test (SPT) reactivity to 8 aeroallergens and the SPT reactivity-related risk factors were evaluated. The allergic sensitization was based on SPT. Univariate and multivariate logistic regressive models were used to estimate the effect size (odds ratio, OR) of correlation within families with positive SPT. Results: Of 4,213 analyzed subjects in 1,006 asthma index families, 40.9% had at least one positive SPT, 42.3% in parents (father: 43.3%; mother: 42.3%), 43.9% in first offspring, and 36.0% in subsequent offspring. The most common allergens were Dermatophagoides pteronyssinus (DP), cockroach and Dermatophagoides farinae (DF). Allergic sensitization status of both parents and first offspring was related to the risk of allergic sensitization for subsequent offspring. The OR for the positive (father)-positive (first offspring) group was 1.92 (p < 0.01), 3.26 (p < 0.01) for the positive (mother)-positive (first offspring) group, and 2.12 (p < 0.01) for the positive (father)-positive (mother) group, which were adjusted for age, sex, body mass index, history of asthma and smoking status. Conclusions: Our findings supported a significant familial aggregation of allergic sensitization in this Chinese population and highlighted the role of genetic factors in allergic sensitization.

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“…The UBE3A antisense gene is controlled by MeCP2 binding at the PWS-IC and therefore both UBE3A and its antisense are also disrupted in Rett syndrome patients. Unlike other genes in the PWS/AS cluster, imprinting of UBE3A is restricted to the brain, has no differential DNA methylation and the gene lies on the telomeric side of the imprinting centre (Soejima and Wagstaff, 2005). It is tempting to speculate that the paternally expressed non-coding antisense RNA may regulate the maternally expressed sense gene using the same mechanism as Xist , Air and Kcnq1ot1 .…”

Section: Non-coding Rnas and Chromatin Spreadingmentioning

confidence: 99%

How imprinting centres work

Lewis

Reik

2006

Cytogenet Genome Res

183

139

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Imprinted genes tend to be clustered in the genome. Most of these clusters have been found to be under the control of discrete DNA elements called imprinting centres (ICs) which are normally differentially methylated in the germline. ICs can regulate imprinted expression and epigenetic marks at many genes in the region, even those which lie several megabases away. Some of the molecular and cellular mechanisms by which ICs control other genes and regulatory regions in the cluster are becoming clear. One involves the insulation of genes on one side of the IC from enhancers on the other, mediated by the insulator protein CTCF and higher-order chromatin interactions. Another mechanism may involve non-coding RNAs that originate from the IC, targeting histone modifications to the surrounding genes. Given that several imprinting clusters contain CTCF dependent insulators and/or non-coding RNAs, it is likely that one or both of these two mechanisms regulate imprinting at many loci. Both mechanisms involve a variety of epigenetic marks including DNA methylation and histone modifications but the hierarchy of and interactions between these modifications are not yet understood. The challenge now is to establish a chain of developmental events beginning with differential methylation of an IC in the germline and ending with imprinting of many genes, often in a lineage dependent manner.

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Imprinting centers, chromatin structure, and disease

Cited by 39 publications

References 53 publications

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities

Familial Aggregation of Skin Sensitization to Aeroallergens in a Rural Area in China

How imprinting centres work

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