FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2088237310> ?p ?o ?g. }

• W2088237310 endingPage "10800" @default.
• W2088237310 startingPage "10796" @default.
• W2088237310 abstract "Most cases of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol, are caused by mutations in the steroid 21-hydroxylase gene (CYP21). Steroid 21-hydroxylase deficiency is unusual among genetic diseases in that approximately 95% of the mutant alleles have apparently been generated by recombination between a normally active gene (CYP21) and a linked pseudogene (CYP21P). Approximately 20% of mutant alleles carry DNA deletions of 30 kb that have presumably been generated by unequal meiotic crossing-over, whereas 75% carry one or more mutations in CYP21 that are normally found in the CYP21P pseudogene. These latter mutations are termed gene conversions, although the mechanism by which they are generated is not well understood. To assess the frequency at which these different recombination events occur, we have used PCR to detect de novo deletions and gene conversions in matched sperm and peripheral blood leukocyte DNA samples from normal individuals. Deletions with breakpoints in a 100-bp region in intron 2 and exon 3 were detected in sperm DNA samples with frequencies of approximately 1 in 10(5)-10(6) genomes but were never detected in the matching leukocyte DNA. Gene conversions in the same region occur in approximately 1 in 10(3)-10(5) genomes in both sperm and leukocyte DNA. These data suggest that whereas deletions occur exclusively in meiosis, gene conversions occur during both meiosis and mitosis, or perhaps only during mitosis. Thus, gene conversions must occur by a mechanism distinct from unequal crossing-over." @default.
• W2088237310 created "2016-06-24" @default.
• W2088237310 creator A5014777785 @default.
• W2088237310 creator A5033634039 @default.
• W2088237310 date "1995-11-07" @default.
• W2088237310 modified "2023-10-13" @default.
• W2088237310 title "Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms." @default.
• W2088237310 cites W1498397413 @default.
• W2088237310 cites W1518176291 @default.
• W2088237310 cites W1563095952 @default.
• W2088237310 cites W1963680434 @default.
• W2088237310 cites W1964331183 @default.
• W2088237310 cites W1973611733 @default.
• W2088237310 cites W1985858914 @default.
• W2088237310 cites W1986580467 @default.
• W2088237310 cites W1997941226 @default.
• W2088237310 cites W2001682487 @default.
• W2088237310 cites W2006346558 @default.
• W2088237310 cites W2006815517 @default.
• W2088237310 cites W2015197852 @default.
• W2088237310 cites W2045270018 @default.
• W2088237310 cites W2047088170 @default.
• W2088237310 cites W2059708085 @default.
• W2088237310 cites W2065542619 @default.
• W2088237310 cites W2068968716 @default.
• W2088237310 cites W2070818730 @default.
• W2088237310 cites W2073009951 @default.
• W2088237310 cites W2077894644 @default.
• W2088237310 cites W2085602910 @default.
• W2088237310 cites W2086492053 @default.
• W2088237310 cites W2130071672 @default.
• W2088237310 cites W2151391692 @default.
• W2088237310 cites W2158975515 @default.
• W2088237310 cites W44014411 @default.
• W2088237310 cites W49200365 @default.
• W2088237310 doi "https://doi.org/10.1073/pnas.92.23.10796" @default.
• W2088237310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/40699" @default.
• W2088237310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7479886" @default.
• W2088237310 hasPublicationYear "1995" @default.
• W2088237310 type Work @default.
• W2088237310 sameAs 2088237310 @default.
• W2088237310 citedByCount "166" @default.
• W2088237310 countsByYear W20882373102012 @default.
• W2088237310 countsByYear W20882373102013 @default.
• W2088237310 countsByYear W20882373102014 @default.
• W2088237310 countsByYear W20882373102015 @default.
• W2088237310 countsByYear W20882373102016 @default.
• W2088237310 countsByYear W20882373102017 @default.
• W2088237310 countsByYear W20882373102018 @default.
• W2088237310 countsByYear W20882373102019 @default.
• W2088237310 countsByYear W20882373102020 @default.
• W2088237310 countsByYear W20882373102021 @default.
• W2088237310 countsByYear W20882373102022 @default.
• W2088237310 countsByYear W20882373102023 @default.
• W2088237310 crossrefType "journal-article" @default.
• W2088237310 hasAuthorship W2088237310A5014777785 @default.
• W2088237310 hasAuthorship W2088237310A5033634039 @default.
• W2088237310 hasBestOaLocation W20882373101 @default.
• W2088237310 hasConcept C102744134 @default.
• W2088237310 hasConcept C104317684 @default.
• W2088237310 hasConcept C112212490 @default.
• W2088237310 hasConcept C141231307 @default.
• W2088237310 hasConcept C143065580 @default.
• W2088237310 hasConcept C148196450 @default.
• W2088237310 hasConcept C153911025 @default.
• W2088237310 hasConcept C180754005 @default.
• W2088237310 hasConcept C2777767042 @default.
• W2088237310 hasConcept C34957205 @default.
• W2088237310 hasConcept C501734568 @default.
• W2088237310 hasConcept C54355233 @default.
• W2088237310 hasConcept C7602840 @default.
• W2088237310 hasConcept C86803240 @default.
• W2088237310 hasConceptScore W2088237310C102744134 @default.
• W2088237310 hasConceptScore W2088237310C104317684 @default.
• W2088237310 hasConceptScore W2088237310C112212490 @default.
• W2088237310 hasConceptScore W2088237310C141231307 @default.
• W2088237310 hasConceptScore W2088237310C143065580 @default.
• W2088237310 hasConceptScore W2088237310C148196450 @default.
• W2088237310 hasConceptScore W2088237310C153911025 @default.
• W2088237310 hasConceptScore W2088237310C180754005 @default.
• W2088237310 hasConceptScore W2088237310C2777767042 @default.
• W2088237310 hasConceptScore W2088237310C34957205 @default.
• W2088237310 hasConceptScore W2088237310C501734568 @default.
• W2088237310 hasConceptScore W2088237310C54355233 @default.
• W2088237310 hasConceptScore W2088237310C7602840 @default.
• W2088237310 hasConceptScore W2088237310C86803240 @default.
• W2088237310 hasIssue "23" @default.
• W2088237310 hasLocation W20882373101 @default.
• W2088237310 hasLocation W20882373102 @default.
• W2088237310 hasLocation W20882373103 @default.
• W2088237310 hasLocation W20882373104 @default.
• W2088237310 hasOpenAccess W2088237310 @default.
• W2088237310 hasPrimaryLocation W20882373101 @default.
• W2088237310 hasRelatedWork W1515820291 @default.
• W2088237310 hasRelatedWork W1596459374 @default.
• W2088237310 hasRelatedWork W1896476097 @default.
• W2088237310 hasRelatedWork W1906368788 @default.
• W2088237310 hasRelatedWork W1983497264 @default.

• next