ArticlePediatric pulmonology2008
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.
Article in Pediatric pulmonology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 6 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.
Epidemiology of Surfactant Protein-B Deficiency
Genetic Regulation of Surfactant Deficiency in Human Newborn Infants
Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.World journal of pediatrics : WJP · 2016Article
- Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.Italian journal of pediatrics · 2016Article
- Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.European journal of human genetics : EJHG · 2015Article
- An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.American journal of respiratory and critical care medicine · 2013Review
- Random field model reveals structure of the protein recombinational landscape.PLoS computational biology · 2012Article
- Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.Pediatric research · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
objectiveTo determine haplotype background of common mutations in the genes encoding surfactant proteins B and C (SFTPB and SFTPC) and to assess recombination in SFTPC. STUDY
designUsing comprehensive resequencing of SFTPC and SFTPB, we assessed linkage disequilibrium (LD) (D'), and computationally inferred haplotypes. We computed average recombination rates and Bayes factors (BFs) within SFTPC in a population cohort and near SFTPC (+/-50 kb) in HapMap cohorts. We then biochemically confirmed haplotypes in families with sporadic SFTPC mutations (n = 11) and in individuals with the common SFTPB mutation (121ins2, n = 30).
resultsWe detected strong evidence (weak LD and BFs > 1,400) for an intragenic recombination hot spot in both genes. The 121ins2 SFTPB mutation occurred predominantly (89%) on 2 common haplotypes. In contrast, no consistent haplotypes were associated with mutated SFTPC alleles. Sporadic SFTPC mutations arose on the paternal allele in four of five families; the remaining child had evidence for somatic recombination on the mutated allele.
conclusionsIn contrast to SFTPB, disease alleles at SFTPC do not share a common haplotype background. Most sporadic mutations in SFTPC occurred on the paternal allele, but somatic recombination may be an important mechanism of mutation in SFTPC.
Indexed as
Identifiers
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.