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Literature DB >> 7512861

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

Abstract

Prader-Willi syndrome (PWS), a human neuroendocrine disorder, is associated with deficiencies of paternal chromosome 15q12. Small nuclear ribonucleoprotein polypeptide N (SNRPN) is the first expressed gene identified in the PWS critically deleted region. Following our demonstration that the murine homologue of SNRPN is imprinted, we have characterized a sequence polymorphism within expressed portions of human SNRPN and show that human SNRPN is monoallelically expressed in fetal brain and heart and in adult brain. Analysis of maternal DNA and SNRPN cDNA confirmed that the maternal allele of SNRPN is not expressed in fetal brain and heart. Maternal imprinting of SNRPN supports the hypothesis that paternal absence of SNRPN is responsible for the PWS phenotype.

Entities: Disease Gene Species

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Year: 1994 PMID： 7512861 DOI： 10.1038/ng0294-163

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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Cited

37 in total

Review 1. Genomic imprinting: implications for human disease.

Authors: J G Falls; D J Pulford; A A Wylie; R L Jirtle
Journal: Am J Pathol Date: 1999-03 Impact factor: 4.307

2. High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes.

Authors: Elena Allen; Steve Horvath; Frances Tong; Peter Kraft; Elizabeth Spiteri; Arthur D Riggs; York Marahrens
Journal: Proc Natl Acad Sci U S A Date: 2003-08-08 Impact factor: 11.205

3. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

Authors: J M Conroy; T A Grebe; L A Becker; K Tsuchiya; R D Nicholls; K Buiting; B Horsthemke; S B Cassidy; S Schwartz
Journal: Am J Hum Genet Date: 1997-08 Impact factor: 11.025

4. Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

Authors: L W Burke; J E Wiley; C C Glenn; D J Driscoll; K M Loud; A J Smith; T Kushnick
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025

5. The construction of cDNA libraries from human single preimplantation embryos and their use in the study of gene expression during development.

Authors: J Adjaye; R Daniels; M Monk
Journal: J Assist Reprod Genet Date: 1998-05 Impact factor: 3.412

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

Review 1. Genomic imprinting: implications for human disease.

2. High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes.

3. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

4. Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

5. The construction of cDNA libraries from human single preimplantation embryos and their use in the study of gene expression during development.

6. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.

7. Ubiquitous expression and imprinting of Snrpn in the mouse.

8. A molecular and cytogenetic study in Finnish Prader-Willi patients.

9. DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

10. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.