Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

The membrane protein dysferlin (DYSF) is important for calcium-activated plasma membrane repair, especially in muscle fibre cells. Nearly 600 mutations in the DYSF gene have been identified that are causative for rare genetic forms of muscular dystrophy. The dysferlin protein consists of seven C2 domains (C2A-C2G, 13%-33% identity) used to recruit calcium ions and traffic accessory proteins and vesicles to injured membrane sites needed to reseal a wound. Amongst these, the C2A is the most prominent facilitating the calcium-sensitive interaction with membrane surfaces. In this work, we determined the calcium-free and calcium-bound structures of the dysferlin C2A domain using NMR spectroscopy and X-ray crystallography. We show that binding two calcium ions to this domain reduces the flexibility of the Ca2+-binding loops in the structure. Furthermore, calcium titration and mutagenesis experiments reveal the tight coupling of these calcium-binding sites whereby the elimination of one site abolishes calcium binding to its partner site. We propose that the electrostatic potential distributed by the flexible, negatively charged calcium-binding loops in the dysferlin C2A domain control first contact with calcium that promotes subsequent binding. Based on these results, we hypothesize that dysferlin uses a 'calcium-catching' mechanism to respond to calcium influx during membrane repair.

Download full-text PDF

Source
http://dx.doi.org/10.1042/BCJ20200773DOI Listing

Publication Analysis

Top Keywords

dysferlin c2a
12
c2a domain
12
membrane repair
8
calcium ions
8
calcium
7
dysferlin
6
membrane
5
calcium binds
4
binds rigidifies
4
rigidifies dysferlin
4

Similar Publications

Ferlins are vesicle trafficking proteins composed of folded C2 domains conjugated by linkers which are largely disordered. Although a role for the C2 domains as calcium sensors has been established it remains unclear whether the linkers function beyond acting as passive spacers. We examined the C2A-C2B linker sequences of vertebrate ferlins and found both putative short linear motifs (SLiMs) as well as membrane binding sequences for members of the protein family.

View Article and Find Full Text PDF

The Dysferlin C2A Domain Binds PI(4,5)P2 and Penetrates Membranes.

J Mol Biol

September 2023

Department of Biochemistry and Biophysics, Oregon State University, Corvallis, OR 97331, USA. Electronic address:

Dysferlin is a large membrane protein found most prominently in striated muscle. Loss of dysferlin activity is associated with reduced exocytosis, abnormal intracellular Ca2+ and the muscle diseases limb-girdle muscular dystrophy and Miyoshi myopathy. The cytosolic region of dysferlin consists of seven C2 domains with mutations in the C2A domain at the N-terminus resulting in pathology.

View Article and Find Full Text PDF
Article Synopsis
  • Limb-Girdle Muscular Dystrophy Type-2B/2R is linked to mutations in the dysferlin gene, particularly two specific missense mutations in the C2A domain.
  • These mutations disrupt dysferlin's function in cell membrane repair, likely due to their tendency to form amyloid structures that trigger an inflammatory response.
  • The study indicates that inflammation and muscle dysfunction in this condition may result from the pathological effects of these C2A mutations and other similar mutations affecting the protein's hydrophobic core.
View Article and Find Full Text PDF

Quantitative surface plasmon resonance (SPR) was utilized to determine binding strength and calcium dependence of direct interactions between dysferlin and proteins likely to mediate skeletal muscle repair, interrupted in limb girdle muscular dystrophy type 2B/R2. Dysferlin canonical C2A (cC2A) and C2F/G domains directly interacted with annexin A1, calpain-3, caveolin-3, affixin, AHNAK1, syntaxin-4, and mitsugumin-53, with cC2A the primary target and C2F lesser involved, overall demonstrating positive calcium dependence. Dysferlin C2 pairings alone showed negative calcium dependence in almost all cases.

View Article and Find Full Text PDF

Orientation of the Dysferlin C2A Domain is Responsive to the Composition of Lipid Membranes.

J Phys Chem B

January 2023

The School of Chemical, Biological, and Environmental Engineering, Oregon State University, Corvallis, Oregon97331, United States.

Dysferlin is a 230 kD protein that plays a critical function in the active resealing of micron-sized injuries to the muscle sarcolemma by recruiting vesicles to patch the injured site via vesicle fusion. Muscular dystrophy is observed in humans when mutations disrupt this repair process or dysferlin is absent. While lipid binding by dysferlin's C2A domain (dysC2A) is considered fundamental to the membrane resealing process, the molecular mechanism of this interaction is not fully understood.

View Article and Find Full Text PDF