Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2020 Aug 5;22(12):2041–2051. doi: 10.1038/s41436-020-0915-1

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

PMC Copyright notice

Fig. 3 — Sanger sequencing (a), Agena MassARRAY experiments (b), and in vitro microtubule gliding assays (c–f) show that proband 1 variably expresses three DYNC2H1 transcripts with impaired in vitro microtubule gliding. Variants are numbered according to the DYNC2H1 transcript NM_001080463.1. (a) The top right electropherogram shows that transcript 1 is expressed even though V1 (orange) causes a frameshift and premature termination codon (PTC) in exon 88 (brown). Top left and bottom electropherograms show that V2 (red) causes incomplete in-frame exon skipping of exon 41 (blue), resulting in the expression of transcript 2a with V2 and transcript 2b missing exon 41. Exon 40: pink. Exon 42: green. Rest of the DYNC2H1 exons and introns: black dashed lines. Location of transcript-specific identifier nucleotides used for Agena MassARRAY experiments: roman numerals. (b) MassARRAY shows product peaks for identifier nucleotides I–IV and shows that 2b is the dominant transcript. Allelotype frequency = (peak allele 1 – peak area variance allele 1) / (peak allele 1 – area variance allele 1) + (peak allele 2 – area variance allele 2). (c) Sodium dodecyl sulfate–polyacrylamide gel electrophoresis (SDS-PAGE) of purified wild type (WT), V2, and V1 dynein-2 motor domains. (d) Fluorescently labeled (Alexa-488) microtubules (MTs) are added and translocated by dynein in the presence of adenosine triphosphate (ATP). The movement is monitored using total internal reflection fluorescence (TIRF) microscopy. Time sequence of microtubule translocation by immobilized wild type, V2, and V1 dynein motor domains at 1.6 nM input concentration. (e) Plot of microtubule gliding velocity. Lines show mean values (± s.d.). n = 312 microtubule gliding events (WT), n = 157 (V2), n = 91 (V1). Experiments were carried out in duplicate with two different protein preparations. cDNA complementary DNA, mRNA messenger RNA, SNP single-nucleotide polymorphism.