Disease relevance of DCTN1

• A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD) [1].
• The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B) [2].
• A synthetic peptide corresponding to residues 135 to 155 ( P135 -155) of hepatitis B surface antigen (HBsAg) failed to elicit in free form anti-peptide antibodies or anti-HBs [3].

High impact information on DCTN1

• These results suggest that the inhibition of the P-135-ABP activity by Ca(2+)-CaM is an important regulatory mechanism for organizing actin filaments in the tip region of lily pollen tubes [4].
• In the presence of both Ca(2+) and CaM, P-135-ABP organized F-actin into thin bundles, instead of the thick bundles observed in the absence of CaM [4].
• Of the various low HLB primary surfactants tested, only cethyl dimethicone copolyol (Abil EM90), A-B-A block copolymer (Arlacel P135), and polyglycerol ester of ricinoleic acid (Grinstead PGR-90) yielded a stable W/O emulsion [5].
• Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome [6].
• Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization [7].

Biological context of DCTN1

• We have characterized the genomic organization of the human DCTN1-SLC4A5 locus which spans approximately 230 kilobases on chromosome 2p13 and contains 66 exons [8].
• The predicted protein has a molecular mass of 142 kDa and exhibits 95% amino acid sequence identity to the predicted amino acid sequence of human p150Glued (DCTN1) [9].

Associations of DCTN1 with chemical compounds

• However, polymers of P135 -155 (prepared by linking to diaminoalkanes ) and synthetic conjugates prepared by binding P135 -155 to liposomes or polylysine were immunogenic [3].
• In order to prepare CEAs successfully, the concentrations of NP10 and P135 should be in 1.5-3.0% (w/v) and 0.25-1.0% (w/v), respectively, together with the ratio of the volume of oil phase to the volume of inner aqueous phase of CEAs, R(oi)> or =1:1 [10].

Physical interactions of DCTN1

• To test directly and rigorously the hypothesis that dynactin is required to attach dynein to membranes, we used both a Drosophila mutant and RNA interference to generate organisms and cells lacking the critical dynactin subunit, actin-related protein 1 [11].

Other interactions of DCTN1

• This information should allow the study of potential genomic alterations of DCTN1-SLC4A5 in patients with diseases mapping to this genomic region [8].
• The allelic variants of the DCTN1 gene may represent a previously unknown genomic risk factor for ALS [12].
• P-135-ABP also enhanced the depolymerization of actin filaments during dilution-mediated disassembly [13].
• Plant villin, lily P-135-ABP, possesses G-actin binding activity and accelerates the polymerization and depolymerization of actin in a Ca2+-sensitive manner [13].

References