Recombinant Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1), partial

1. This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China. PMID: 29359448
2. In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. PMID: 27925158
3. Compound heterozygous mutations in DYNC2H1 and ALOX15 were identified in miscarriages from two families with RPL. DYNC2H1 is involved in cilia biogenesis and has been associated with fetal lethality in humans. ALOX15 is expressed in placenta and its dysregulation has been associated with inflammation, placental, dysfunction, abnormal oxidative stress response and angiogenesis. PMID: 26826164
4. next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively PMID: 27323140
5. Compound heterozygous mutation in DYNC2H1 gene is associated with severe short-rib polydactyly syndrome type III. PMID: 25410398
6. Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for cynein cytoplasmic heavy chain 1. PMID: 26147384
7. a DYNC2H1 mutations causing SRPS III PMID: 25982780
8. Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. PMID: 24046448
9. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. PMID: 23456818
10. This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. PMID: 22499340
11. In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities. PMID: 21723285
12. Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6, NPM1 and SRI and lower expression of NRGN and TM4SF2 in GBM tumors. PMID: 16320026
13. short-rib polydactyly syndrome affected individuals were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C PMID: 19361615
14. ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group. PMID: 19442771

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HGNC: 2962

OMIM: 603297

KEGG: hsa:79659

STRING: 9606.ENSP00000381167

UniGene: Hs.503721