Lamin A Function

Mattout et al 2006.
Lamin a function. Parnaik and manju 2006. Western blot analysis showed 25 of normal lamin a levels and no truncated form was detected. Lamins also known as nuclear lamins are fibrous proteins in type v intermediate filaments providing structural function and transcriptional regulation in the cell nucleus nuclear lamins interact with inner nuclear membrane proteins to form the nuclear lamina on the interior of the nuclear envelope lamins have elastic and mechanosensitive properties and can alter gene regulation in a. Lamin a plays an important role in nuclear structure and function and mutations in the lamin a gene cause a large number of different human diseases including cardiomyopathies muscular dystrophies and hutchinson gilford progeria syndrome broers et al 2006.
Only lamin c was present in most cells and lamin b1 was found in the nucleoplasm suggesting that it had dissociated from the nuclear envelope due to the loss of lamin a. Parnaik and manju 2006. Capell and collins 2006. Machiels et al 1996 a type lamins are absent in early embryonic cells but are present in.
The nuclear lamina is a filamentous structure composed of lamins that supports the inner nuclear membrane. Furukawa et al 1994. Lamin structure and assembly. Results from various studies suggest that lamins may have major functions in dna.
Vertebrate lamins consist of two types a and b. Lmna lamin a c is a protein coding gene. Diseases associated with lmna include hutchinson gilford progeria syndrome and emery dreifuss muscular dystrophy 2 autosomal dominant among its related pathways are neurodegenerative diseases and mitotic prophase gene ontology go annotations related to this gene include structural molecule activity. Lamin a c is a vital protein for nuclear architecture that supports chromatin organization as well as mechanical integrity and.
Mattout et al 2006. Lamin proteins are thought to be involved in nuclear stability chromatin structure and gene expression. The lamin family of proteins make up the matrix and are highly conserved in evolution. Lamins are grouped into a type and b type lamins.
During mitosis the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. In mammals alternative splicing gives rise to lamin a and lamin c and the less abundant isoforms lamin aδ10 and lamin c2 fisher et al 1986. Several integral membrane proteins including lbr lamin b receptor lap lamin associated polypeptide 1 and lap 2 bind nuclear lamins in vitro and may influence lamin function and dynamics in vivo. A type lamins are encoded by a single gene lmna.
Mesenchymal stem cells msc maintain the musculoskeletal system by differentiating into multiple cell types including osteocytes and adipocytes. Lamin a was detected in 10 to 20 of hgps lymphocytes. Capell and collins 2006.