Imprinted regulation in the region of Prader-Willi and Angelman syndromes

Mitsuyoshi Nakao, Tadashi Anan, Hideyuki Saya, James S. Sutcliffe, Preethi H. Gunaratne, Arthur L. Beaudet

Research output: Contribution to journalArticle

Abstract

Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are distinct clinical phenotypes resulting from paternal and maternal deficiencies respectively in human chromosome 15qll-ql3, and are caused by deletion, uniparental disomy, or other mutations. Three paternally expressed transcripts containing small nuclear ribonucleoproteinassociated polypeptide N(SNRPN), PAR-5 and PAR-1 were absent in cultured cells from PWS patients with a small deletion that involve a differentially methylated CpG island around a 5' untranslated exon alpha of SNRPN gene. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. The small deletion, which is benign when maternally transmitted, extends upstream 50 kb from the CpG island, and results in the loss of expression of the three imprinted transcripts, altered methylation and replication timing around SNRPN gene, implying the presence of an imprinting control element.

Original languageEnglish
Pages (from-to)84
Number of pages1
JournalJapanese Journal of Human Genetics
Volume41
Issue number1
Publication statusPublished - 1996
Externally publishedYes

Fingerprint

Angelman Syndrome
Prader-Willi Syndrome
CpG Islands
Methylation
Peptides
Mothers
Uniparental Disomy
Human Chromosomes
Genes
Exons
Cultured Cells
Chromosomes
Phenotype
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Nakao, M., Anan, T., Saya, H., Sutcliffe, J. S., Gunaratne, P. H., & Beaudet, A. L. (1996). Imprinted regulation in the region of Prader-Willi and Angelman syndromes. Japanese Journal of Human Genetics, 41(1), 84.

Imprinted regulation in the region of Prader-Willi and Angelman syndromes. / Nakao, Mitsuyoshi; Anan, Tadashi; Saya, Hideyuki; Sutcliffe, James S.; Gunaratne, Preethi H.; Beaudet, Arthur L.

In: Japanese Journal of Human Genetics, Vol. 41, No. 1, 1996, p. 84.

Research output: Contribution to journalArticle

Nakao, M, Anan, T, Saya, H, Sutcliffe, JS, Gunaratne, PH & Beaudet, AL 1996, 'Imprinted regulation in the region of Prader-Willi and Angelman syndromes', Japanese Journal of Human Genetics, vol. 41, no. 1, pp. 84.
Nakao, Mitsuyoshi ; Anan, Tadashi ; Saya, Hideyuki ; Sutcliffe, James S. ; Gunaratne, Preethi H. ; Beaudet, Arthur L. / Imprinted regulation in the region of Prader-Willi and Angelman syndromes. In: Japanese Journal of Human Genetics. 1996 ; Vol. 41, No. 1. pp. 84.
@article{3ec759d8b21e4761b06355b93f0b3419,
title = "Imprinted regulation in the region of Prader-Willi and Angelman syndromes",
abstract = "Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are distinct clinical phenotypes resulting from paternal and maternal deficiencies respectively in human chromosome 15qll-ql3, and are caused by deletion, uniparental disomy, or other mutations. Three paternally expressed transcripts containing small nuclear ribonucleoproteinassociated polypeptide N(SNRPN), PAR-5 and PAR-1 were absent in cultured cells from PWS patients with a small deletion that involve a differentially methylated CpG island around a 5' untranslated exon alpha of SNRPN gene. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. The small deletion, which is benign when maternally transmitted, extends upstream 50 kb from the CpG island, and results in the loss of expression of the three imprinted transcripts, altered methylation and replication timing around SNRPN gene, implying the presence of an imprinting control element.",
author = "Mitsuyoshi Nakao and Tadashi Anan and Hideyuki Saya and Sutcliffe, {James S.} and Gunaratne, {Preethi H.} and Beaudet, {Arthur L.}",
year = "1996",
language = "English",
volume = "41",
pages = "84",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - Imprinted regulation in the region of Prader-Willi and Angelman syndromes

AU - Nakao, Mitsuyoshi

AU - Anan, Tadashi

AU - Saya, Hideyuki

AU - Sutcliffe, James S.

AU - Gunaratne, Preethi H.

AU - Beaudet, Arthur L.

PY - 1996

Y1 - 1996

N2 - Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are distinct clinical phenotypes resulting from paternal and maternal deficiencies respectively in human chromosome 15qll-ql3, and are caused by deletion, uniparental disomy, or other mutations. Three paternally expressed transcripts containing small nuclear ribonucleoproteinassociated polypeptide N(SNRPN), PAR-5 and PAR-1 were absent in cultured cells from PWS patients with a small deletion that involve a differentially methylated CpG island around a 5' untranslated exon alpha of SNRPN gene. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. The small deletion, which is benign when maternally transmitted, extends upstream 50 kb from the CpG island, and results in the loss of expression of the three imprinted transcripts, altered methylation and replication timing around SNRPN gene, implying the presence of an imprinting control element.

AB - Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are distinct clinical phenotypes resulting from paternal and maternal deficiencies respectively in human chromosome 15qll-ql3, and are caused by deletion, uniparental disomy, or other mutations. Three paternally expressed transcripts containing small nuclear ribonucleoproteinassociated polypeptide N(SNRPN), PAR-5 and PAR-1 were absent in cultured cells from PWS patients with a small deletion that involve a differentially methylated CpG island around a 5' untranslated exon alpha of SNRPN gene. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. The small deletion, which is benign when maternally transmitted, extends upstream 50 kb from the CpG island, and results in the loss of expression of the three imprinted transcripts, altered methylation and replication timing around SNRPN gene, implying the presence of an imprinting control element.

UR - http://www.scopus.com/inward/record.url?scp=33748200758&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748200758&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:33748200758

VL - 41

SP - 84

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 1

ER -