ArticleAmerican journal of respiratory cell and molecular biology2014
Genome reference and sequence variation in the large repetitive central exon of human MUC5AC.
Article in American journal of respiratory cell and molecular biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00037765 (Gene Modifiers of Cystic Fibrosis Lung Disease), which is not on this map. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Gene Modifiers of Cystic Fibrosis Lung Disease
Who cites it
31 citing papers in PubMed, 37 citations in OpenAlex.
- Mucins and Respiratory Virus Infection.Annual review of virology · 2026Review
- Complex structural variation, phylogeny, and disease associations of the mucin pangenome.medRxiv : the preprint server for health sciences · 2026Article
- Locityper enables targeted genotyping of complex polymorphic genes.Nature genetics · 2025Article
- MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.Genome medicine · 2024Article
- Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B.American journal of human genetics · 2024Article
- Structural and genetic diversity in the secreted mucins,bioRxiv : the preprint server for biology · 2024Article
- Inducible expression quantitative trait locus analysis of the MUC5AC gene in asthma in urban populations of children.The Journal of allergy and clinical immunology · 2021Article
- Understanding the Clinical Impact of MUC5AC Expression on Pancreatic Ductal Adenocarcinoma.Cancers · 2021Review
- Epithelial Aryl Hydrocarbon Receptor Protects From Mucus Production by Inhibiting ROS-Triggered NLRP3 Inflammasome in Asthma.Frontiers in immunology · 2021Article
- A comprehensive map of single-base polymorphisms in the hypervariableJournal of lipid research · 2019Article
- Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC medical genomics · 2018Article
- The central exons of the human MUC2 and MUC6 mucins are highly repetitive and variable in sequence between individuals.Scientific reports · 2018Article
- Role of mucins in lung homeostasis: regulated expression and biosynthesis in health and disease.Biochemical Society transactions · 2018Review
- Ramifications of secreted mucin MUC5AC in malignant journey: a holistic view.Carcinogenesis · 2018Review
- Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.Scientific reports · 2018Article
- Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.Human mutation · 2017Article
- Aspergillosis and the role of mucins in cystic fibrosis.Pediatric pulmonology · 2017Review
- Control of lung defence by mucins and macrophages: ancient defence mechanisms with modern functions.The European respiratory journal · 2016Review
- PacBio Sequencing and Its Applications.Genomics, proteomics & bioinformatics · 2015Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
Despite modern sequencing efforts, the difficulty in assembly of highly repetitive sequences has prevented resolution of human genome gaps, including some in the coding regions of genes with important biological functions. One such gene, MUC5AC, encodes a large, secreted mucin, which is one of the two major secreted mucins in human airways. The MUC5AC region contains a gap in the human genome reference (hg19) across the large, highly repetitive, and complex central exon. This exon is predicted to contain imperfect tandem repeat sequences and multiple conserved cysteine-rich (CysD) domains. To resolve the MUC5AC genomic gap, we used high-fidelity long PCR followed by single molecule real-time (SMRT) sequencing. This technology yielded long sequence reads and robust coverage that allowed for de novo sequence assembly spanning the entire repetitive region. Furthermore, we used SMRT sequencing of PCR amplicons covering the central exon to identify genetic variation in four individuals. The results demonstrated the presence of segmental duplications of CysD domains, insertions/deletions (indels) of tandem repeats, and single nucleotide variants. Additional studies demonstrated that one of the identified tandem repeat insertions is tagged by nonexonic single nucleotide polymorphisms. Taken together, these data illustrate the successful utility of SMRT sequencing long reads for de novo assembly of large repetitive sequences to fill the gaps in the human genome. Characterization of the MUC5AC gene and the sequence variation in the central exon will facilitate genetic and functional studies for this critical airway mucin.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.