β-Thalassemia Due to Intronic LINE-1 Insertion in theβ-GlobinGene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of theβ-GlobinL1Allele-Reference-Cited by-同舟云学术

β-Thalassemia Due to Intronic LINE-1 Insertion in theβ-GlobinGene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of theβ-GlobinL1Allele

Published:2013-08-13 Issue:10 Volume:34 Page:1361-1365
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lanikova Lucie,Kucerova Jana,Indrak Karel¹,Divoka Martina¹,Issa Jean-Pierre²,Papayannopoulou Thalia³,Prchal Josef T.⁴,Divoky Vladimir

Affiliation:

1. Department of Hemato-Oncology; Faculty of Medicine and Dentistry and University Hospital; Olomouc; Czech Republic

2. Fels Institute; Temple University School of Medicine; Philadelphia; Pennsylvania

3. Department of Medicine/Division of Hematology; School of Medicine, University of Washington; Seattle; Washington

4. Departments of Medicine; Pathology and Genetics, University of Utah and Medical Service, George E. Wahlen Department of Veterans Affairs Medical Center; Salt Lake City; Utah

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22383/fullpdf

Reference20 articles.

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2. Two 3′ sequences direct adult erythroid-specific expression of human β-globin genes in transgenic mice;Boehringer;Proc Natl Acad Sci USA,1987

3. A novel mechanism of β-thalassemia. The insertion of L1 retrotransposable element into β globin IVSII;Divoky;Blood,1996

4. Epigenetic silencing of engineered L1 retrotranspo-sition events in human embryonic carcinoma cells;Garcia-Perez;Nature,2010

5. Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes;Han;Nature,2004

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