Journal article
Normal and aberrant splicing of LMNA
Journal of Medical Genetics, Vol.51(4), pp.215-223
2014
Abstract
The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5′ and 3′ untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse physiological roles, ranging from mechanical nuclear membrane maintenance to gene regulation. The clinical spectrum of diseases (called ‘laminopathies’) caused by LMNA mutations is broad, including at least eight well-characterised phenotypes, some of which are confined to the skeletal muscles or skin, while others are multisystemic. This review discusses the different alternatively spliced isoforms of LMNA and the regulation of LMNA splicing, as well as the subgroup of mutations that affect splicing of LMNA pre-mRNA, and also seeks to bridge the mis-splicing of LMNA at transcript level and the resulting clinical phenotypes. Finally, we discuss the manipulation of LMNA splicing by splice-switching antisense oligonucleotides and its therapeutic potential for the treatment of some laminopathies.
Details
- Title
- Normal and aberrant splicing of LMNA
- Authors/Creators
- Y-B Luo (Author/Creator)F.L. Mastaglia (Author/Creator)S.D. Wilton (Author/Creator)
- Publication Details
- Journal of Medical Genetics, Vol.51(4), pp.215-223
- Publisher
- BMJ Group
- Identifiers
- 991005543139207891
- Murdoch Affiliation
- Centre for Comparative Genomics; Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.54 Molecular & Cell Biology - Genetics
- 1.54.1546 Nuclear Architecture Dynamics
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Clinical Medicine