Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I-Reference-Cited by-同舟云学术

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Published:2011-04-08 Issue:6026 Volume:332 Page:238-240
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

He Huiling¹²,Liyanarachchi Sandya¹²,Akagi Keiko¹²,Nagy Rebecca¹³,Li Jingfeng¹²,Dietrich Rosemary C.⁴,Li Wei¹²,Sebastian Nikhil¹²,Wen Bernard¹²,Xin Baozhong⁵,Singh Jarnail⁴,Yan Pearlly¹²,Alder Hansjuerg¹²,Haan Eric⁶⁷,Wieczorek Dagmar⁸,Albrecht Beate⁸,Puffenberger Erik⁹,Wang Heng⁵,Westman Judith A.¹³,Padgett Richard A.⁴,Symer David E.¹²³¹⁰,de la Chapelle Albert¹²

Affiliation:

1. Human Cancer Genetics Program, Ohio State University, Columbus, OH 43210, USA.

2. Department of Molecular Virology, Immunology and Medical Genetics, School of Biomedical Science, Ohio State University, Columbus, OH 43210, USA.

3. Department of Internal Medicine, Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA.

4. Department of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

5. DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.

6. South Australian Clinical Genetics Service, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA 5006, Australia.

7. Department of Pediatrics, University of Adelaide, Adelaide, SA 5005, Australia.

8. Institut für Humangenetik, Universitätsklinikum, Essen, Germany.

9. The Clinic for Special Children, Strasburg, PA 17579, USA.

10. Department of Biomedical Informatics, Ohio State University, Columbus, OH 43210, USA.

Abstract

Minor RNA splicing defects can cause a major human developmental disorder.

Funder

National Cancer Institute

National Institutes of Health

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Link

http://www.sciencemag.org/content/332/6026/238.full.pdf

Reference23 articles.

1. Requirement of U12 snRNA for in Vivo Splicing of a Minor Class of Eukaryotic Nuclear Pre-mRNA Introns

2. Highly Diverged U4 and U6 Small Nuclear RNAs Required for Splicing Rare AT-AC Introns

3. Classification of Introns: U2-Type or U12-Type

4. The spliceosome: the most complex macromolecular machine in the cell?

5. Splicing of a rare class of introns by the U12-dependent spliceosome

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