Ask about this productRelated genes to: DNCH1 antibody
- Gene:
- DYNC1H1 NIH gene
- Name:
- dynein cytoplasmic 1 heavy chain 1
- Previous symbol:
- DNECL, DNCL, DNCH1
- Synonyms:
- Dnchc1, HL-3, p22, DHC1, CMT2O
- Chromosome:
- 14q32.31
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-15
- Date modifiied:
- 2016-03-02
Related products to: DNCH1 antibody
Related articles to: DNCH1 antibody
- Early postzygotic mutations (PZMs) that arise after fertilization but prior to primordial germ cell specification may be present in both somatic and germ cells, causing mosaicism in a parent and constitutive inheritance in their offspring. In clinical family-trio whole-genome sequencing (WGS), such variants are systematically missed because their sub-heterozygous variant allele fraction (VAF) prevents heterozygous calling in the parent, while residual parental allele support disqualifies the variant as a candidate germline de novo mutation (DNM) in the child. Here, we developed a bioinformatic approach to ascertain parental PZMs from unfiltered DNM candidates in standard-depth (∼30×) trio WGS and applied it to 12,015 trios from the Genomics England 100,000 Genomes Project. We identified 1,015 high-confidence early autosomal parental PZMs, a large single-source catalog of this mutation class. These exhibited a monomodal VAF distribution centered around 5% in parental blood, consistent with empirically characterized ascertainment boundaries imposed by standard-depth sequencing and germline variant calling. PZMs showed no parental age or sex bias and displayed a mutational spectrum distinct from that of DNMs, with enrichment for C>A and T>A substitutions and depletion of T>C. Mutational signature analysis revealed that both mutation types are shaped by clock-like signatures SBS1 and SBS5 in similar proportions, suggesting that spectral differences reflect shifts within shared mutagenic processes. Exploratory genomic distribution analysis revealed a negative PZM association with GC content, in contrast to the positive association for DNMs. Among these, we found variants in DYNC1H1 and WT1 with potential clinical relevance that were missed by routine diagnostic pipelines. - Source: PubMed
Publication date: 2026/07/13
Garcia-Salinas O IsaacAndrews Katrina ASanghvi RasheshSayer John ATorra I Benach MariaPham My HScally AylwynMartin Hilary CRahbari Raheleh - To determine the diagnostic yield of comprehensive genetic testing in patients with neuroimaging findings suggestive of lissencephaly spectrum disorders and to characterize novel pathogenic variants contributing to the genetic architecture of the spectrum. - Source: PubMed
Meašić Ana-MariaVulin KatarinaBobinec AdrianaMorožin Pohovski LeonaSansović IvonaMikloš MoranaKero MijanaTripalo Batoš AnaOdak LjubicaBarišić Ingeborg - Inducible control of protein activity with temporal precision is essential for understanding and engineering dynamic cellular behaviors. However, current inducible molecular tools largely rely on overexpression of target proteins, which often disrupts the signaling pathways and cellular functions under investigation. A generalizable method to achieve inducible control of endogenous proteins in mammalian cells remains an unmet need. Here, we present a versatile platform based on engineered streptavidin biomolecular condensates to trap and release endogenously tagged proteins. By tagging endogenous loci with a short streptavidin-binding peptide via CRISPR knock-in, our synthetic streptavidin condensates efficiently partition and functionally inhibit the tagged endogenous proteins. The sequestered cargo protein is rapidly released upon the addition of biotin, restoring protein activity within minutes. We demonstrated the broad applicability of this system by controlling diverse endogenous targets: the anterograde motor KIF5B and retrograde motor DYNC1H1, which regulate intracellular vesicle trafficking, and the Arp2/3 complex subunit ARPC3, which regulates actin dynamics. Furthermore, we developed a dual-inducible system based on rapamycin-dependent condensation of streptavidin, enabling both rapid sequestration and release of endogenous proteins at user-defined time points. Altogether, this engineered streptavidin condensate platform provides a robust, rapid, and scalable approach for manipulating endogenous protein function under physiologically relevant conditions in both basic and translational research. - Source: PubMed
Publication date: 2026/05/25
Kamikawa TakuyaWilson Cole JLan IvyNihongaki Yuta - Mutations in the cytoplasmic dynein heavy chain (DYNC1H1) underlie a range of neurodevelopmental disorders yet how individual variants perturb dynein function remains poorly understood. We characterize the disease-associated P3018S mutation, located in the AAA4 module and within the Lis1-interacting region of the motor. Dynein-dynactin-BicD2 (DDB) complexes containing P3018S dynein move at half the wild-type velocity and generate reduced stall forces but retain the ability to assume the inhibitory phi conformation that Lis1 suppresses, respond to Lis1, and assemble into higher-order force-generating states. Several Schizosaccharomyces species, which lack Lis1, naturally encode a serine at this position, suggesting evolutionary relevance for dynein activation. Using mixed wild-type-mutant assemblies, we find that the dynein occupying the trailing position on dynactin dictates ensemble velocity, and that the leading dynein's LIC enhances trailing-motor velocity by ~130%, revealing a mechanism for leading-to-trailing motor stimulation within multi-dynein assemblies. - Source: PubMed
Publication date: 2026/05/18
Gennerich ArneWalker Caitlyn AnnRao LuShatarupa AbhipsaLiu XingleiYang JunSosa Hernando JZhang Kai - Psoriasis is a chronic inflammatory skin disease. Narrow-band ultraviolet B (NB-UVB) phototherapy is an effective, cost-efficient, and safe treatment for plaque psoriasis; however, predictors of treatment response remain limited. - Source: PubMed
Publication date: 2026/05/25
Yu YingyuanLi BingjieWang YuQu ZhengkaiWang XinJiang YuxiongZhong XiaoyuanChen YoudongHuang DaweiBi XinlingLu JiajingDing YangfengGong YuGu JunZhang XilinShi Yuling