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Literature DB >> 23208756

RNAs of the human chromosome 15q11-q13 imprinted region.

Abstract

The human chromosome 15q11-q13 region hosts a wide variety of coding and noncoding RNAs, and is also the site of nearly every imaginable type of RNA processing. To deepen the intrigue, the transcripts in the human chromosome 15q11-q13 region are subject to regulation by genomic imprinting, and some of these transcripts are imprinted in a tissue-specific manner. As the region is critically important for three human neurogenetic disorders, Angelman syndrome, Prader-Willi syndrome, and 15q duplication syndrome, there is intense interest in understanding the types of RNA and RNA processing that occurs among the imprinted genes. This review summarizes what is known about the various RNAs within the imprinted domain, including a novel type of RNA that was only very recently identified.

Entities: Chemical Disease Gene Species

Mesh：

Substances：
RNA

Year: 2012 PMID： 23208756 PMCID： PMC3578059 DOI： 10.1002/wrna.1150

Source DB: PubMed Journal: Wiley Interdiscip Rev RNA ISSN： 1757-7004 Impact factor: 9.957

82 in total

1. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.

Authors: Y Ning; A Roschke; S L Christian; J Lesser; J S Sutcliffe; D H Ledbetter
Journal: Genome Res Date: 1996-08 Impact factor: 9.043

2. The snRNP core protein SmB and tissue-specific SmN protein are differentially distributed between snRNP particles.

Authors: J D Huntriss; D S Latchman; D G Williams
Journal: Nucleic Acids Res Date: 1993-08-25 Impact factor: 16.971

3. UBE3A/E6-AP mutations cause Angelman syndrome.

Authors: T Kishino; M Lalande; J Wagstaff
Journal: Nat Genet Date: 1997-01 Impact factor: 38.330

4. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

Authors: S Saitoh; K Buiting; P K Rogan; J L Buxton; D J Driscoll; J Arnemann; R König; S Malcolm; B Horsthemke; R D Nicholls
Journal: Proc Natl Acad Sci U S A Date: 1996-07-23 Impact factor: 11.205

5. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Authors: A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke
Journal: Am J Hum Genet Date: 1994-05 Impact factor: 11.025

6. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

Authors: J M Huibregtse; M Scheffner; P M Howley
Journal: Mol Cell Biol Date: 1993-02 Impact factor: 4.272

7. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression.

Authors: B M Cattanach; J A Barr; E P Evans; M Burtenshaw; C V Beechey; S E Leff; C I Brannan; N G Copeland; N A Jenkins; J Jones
Journal: Nat Genet Date: 1992-12 Impact factor: 38.330

8. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.

Authors: R Wevrick; J A Kerns; U Francke
Journal: Hum Mol Genet Date: 1994-10 Impact factor: 6.150

9. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Authors: J S Sutcliffe; M Nakao; S Christian; K H Orstavik; N Tommerup; D H Ledbetter; A L Beaudet
Journal: Nat Genet Date: 1994-09 Impact factor: 38.330

10. Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons.

Authors: Y Hayashi; K Matsuyama; K Takagi; H Sugiura; K Yoshikawa
Journal: Biochem Biophys Res Commun Date: 1995-08-04 Impact factor: 3.575

19 in total

Review 1. Pharmacological therapies for Angelman syndrome.

Authors: Wen-Hann Tan; Lynne M Bird
Journal: Wien Med Wochenschr Date: 2016-01-12

Review 2. Angelman Syndrome.

Authors: Seth S Margolis; Gabrielle L Sell; Mark A Zbinden; Lynne M Bird
Journal: Neurotherapeutics Date: 2015-07 Impact factor: 7.620

RNAs of the human chromosome 15q11-q13 imprinted region.

1. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.

2. The snRNP core protein SmB and tissue-specific SmN protein are differentially distributed between snRNP particles.

3. UBE3A/E6-AP mutations cause Angelman syndrome.

4. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

5. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

6. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

7. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression.

8. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.

9. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

10. Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons.

Review 1. Pharmacological therapies for Angelman syndrome.

Review 2. Angelman Syndrome.

3. A mouse model of Angelman syndrome imprinting defects.

4. Maternal residential air pollution and placental imprinted gene expression.

Review 5. Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.

Review 6. Potential therapeutic approaches for Angelman syndrome.

Review 7. Angelman syndrome: review of clinical and molecular aspects.

Review 8. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders.

9. Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.

Review 10. Long noncoding RNAs in imprinting and X chromosome inactivation.