ArticleAmerican journal of human genetics2016
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53 citing papers in PubMed, 102 citations in OpenAlex.
- Wiring of cellular proteostasis by J-domain proteins.Cell stress & chaperones · 2026Review
- Comparative sperm proteomics in IVF patients with differential fertilization rates identifies FAM205A as a novel biomarker for male infertility.Asian journal of andrology · 2026Article
- Normal Fertility of Dnajb13 (exon2 KO)/(exon2 c.106T > C Mut) Compound Heterozygous Mutant Male Mice.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- DNAJB13 polymorphisms and association with idiopathic asthenozoospermia in Sichuan, China.Basic and clinical andrology · 2025Article
- Male infertility.Systems biology in reproductive medicine · 2025Review
- Functions and Synthesis of Abscisic Acid (ABA) in Humans-Insights from Computational Approaches.International journal of molecular sciences · 2025Review
- Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.Scientific reports · 2025Article
- Molecular models of the sperm head-tail coupling apparatus.Journal of cell science · 2025Review
- Heterogeneity of radial spoke components in Tetrahymena cilia.Cellular and molecular life sciences : CMLS · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly.EMBO reports · 2024Article
- Multi-scale structures of the mammalian radial spoke and divergence of axonemal complexes in ependymal cilia.Nature communications · 2024Article
- Mapping the Most Common Founder Variant inJournal of clinical medicine · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- DNAJB7 is dispensable for male fertility in mice.Reproductive biology and endocrinology : RB&E · 2023Article
- Review
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
- Article
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Authors and funding
26 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. To identify the molecular basis of a PCD phenotype characterized by central complex (CC) defects but normal DA structure, a phenotype found in ∼15% of cases, we performed whole-exome sequencing in a male individual with PCD and unexplained CC defects. This analysis, combined with whole-genome SNP genotyping, identified a homozygous mutation in DNAJB13 (c.833T>G), a gene encoding a HSP40 co-chaperone whose ortholog in the flagellated alga Chlamydomonas localizes to the radial spokes. In vitro studies showed that this missense substitution (p.Met278Arg), which involves a highly conserved residue of several HSP40 family members, leads to protein instability and triggers proteasomal degradation, a result confirmed by the absence of endogenous DNAJB13 in cilia and sperm from this individual. Subsequent DNAJB13 analyses identified another homozygous mutation in a second family; the study of DNAJB13 transcripts obtained from airway cells showed that this mutation (c.68+1G>C) results in a splicing defect consistent with a loss-of-function mutation. Overall, this study, which establishes mutations in DNAJB13 as a cause of PCD, unveils the key role played by DNAJB13 in the proper formation and function of ciliary and flagellar axonemes in humans.
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