Lamin C Sequence

By deleting exons 8 11 sullivan et al.

Lamin c sequence. The two major proteins produced from this gene lamin a and lamin c are made in most of the body s cells. Lamin c tail domain is encoded by sole exon 10 has four unique a a lacks a caax box sequence and is not further modified after synthesis. Lamin a c belongs to the lamin family of proteins. The amino acid sequences deduced from cdna clones of human lamin a and lamin c show identity between these two lamins except for an extra 9 0 kda carboxyl terminal tail that is present only in lamin a.

Lamin a c mutation p arg399cys weakens the interaction between nuclear lamina lamin a c and the nuclear pore complex nup155 leading to the development of atrial fibrillation. Two parallel lamin monomers form lamin hetero homodimers e without stagger through coiled coil interaction of heptad repeats f in the central rod domains. Unlike prelamin a lamin c does not contain a caax motif and is not farnesylated. B differences in the post translational processing between pre lamin a and pre laδ50.

The small difference in the sequence makes lamin a longer than lamin c. Prelamin a and lamin c differ in structure only at the carboxyl terminus. Lamin a mutation impairs interaction with nucleoporin nup155 and disrupts nucleocytoplasmic transport in atrial fibrillation. Note that while most mutations affect both lamin a and c some are specific for lamin a.

Lamins a and c are structural proteins called intermediate filament proteins. Biogenesis of lamin a in normal cells and the failure to generate mature lamin a in hutchinson gilford progeria. Lamins a and c are structural proteins called intermediate filament proteins. Both lamins a and c contain an alpha helical domain of approximately 360 residues that shows striking homology to a corresponding alpha helical rod domain that is the structural hallmark of all.

Prelamin a 664 amino acids contains a 98 amino acid extension not found in lamin c encoded by exons 11 and 12. Lamin c 572 amino acids which terminates with exon 10 sequences contains six unique amino acids at its carboxyl terminus. Unlike lamin c lamin a is generated in a precursor form called prelamin a. 1999 generated a lmna knock out mouse.

Lamin a c sequence variations mutations and polymorphisms animal models. The appearance of skeletal and cardiac muscle alterations and perturbations of the nuclear envelope. The mice lack detectable lamins a c and show a dystrophic condition related to edmd i e. These proteins have a nearly identical sequence of protein building blocks amino acids.

Lmna also known as lamin a c is a protein that in humans is encoded by the lmna gene. The six lamin c specific residues 567 572 are indicated light blue. The small difference in the sequence makes lamin a longer than lamin c. The amino acid sequences of pre lamin a residues 603 664 and pre laδ50 residues 603.

This creates a high amount of homology between the isoforms.