FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2021491947> ?p ?o ?g. }

• W2021491947 endingPage "1033" @default.
• W2021491947 startingPage "1023" @default.
• W2021491947 abstract "The HNPP (hereditary neuropathy with liability to pressure palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the reciprocal products of homologous recombination events between misaligned flanking CMT1A-REP repeats on chromosome 17p11. 2-p12. A 1.7-kb hotspot for homologous recombination was previously identified wherein the relative risk of an exchange event is 50 times higher than in the surrounding 98.7% identical sequence shared by the CMT1A-REPs. To refine the region of exchange further, we designed a PCR strategy to amplify the recombinant CMT1A-REP from HNPP patients as well as the proximal and distal CMT1A-REPs from control individuals. By comparing the sequences across recombinant CMT1A-REPs to that of the proximal and distal CMT1A-REPs, the exchange was mapped to a 557-bp region within the previously identified 1.7-kb hotspot in 21 of 23 unrelated HNPP deletion patients. Two patients had recombined sequences suggesting an exchange event closer to the mariner-like element previously identified near the hotspot. Five individuals also had interspersed patches of proximal or distal repeat specific DNA sequence indicating potential gene conversion during the exchange of genetic material. Our studies provide a direct observation of human meiotic recombination products. These results are consistent with the hypothesis that minimum efficient processing segments, which have been characterized in Escherichia coli, yeast, and cultured mammalian cells, may be required for efficient homologous meiotic recombination in humans." @default.
• W2021491947 created "2016-06-24" @default.
• W2021491947 creator A5000612576 @default.
• W2021491947 creator A5020596201 @default.
• W2021491947 creator A5039639102 @default.
• W2021491947 creator A5050022117 @default.
• W2021491947 creator A5068732023 @default.
• W2021491947 creator A5073905238 @default.
• W2021491947 date "1998-05-01" @default.
• W2021491947 modified "2023-10-09" @default.
• W2021491947 title "Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients" @default.
• W2021491947 cites W1529011174 @default.
• W2021491947 cites W1559146544 @default.
• W2021491947 cites W1779180564 @default.
• W2021491947 cites W1798017247 @default.
• W2021491947 cites W1859682219 @default.
• W2021491947 cites W1969531372 @default.
• W2021491947 cites W1972543680 @default.
• W2021491947 cites W1973224467 @default.
• W2021491947 cites W1973778656 @default.
• W2021491947 cites W1975637026 @default.
• W2021491947 cites W1979979776 @default.
• W2021491947 cites W1992383792 @default.
• W2021491947 cites W1996571076 @default.
• W2021491947 cites W2001519016 @default.
• W2021491947 cites W2004744868 @default.
• W2021491947 cites W2008144158 @default.
• W2021491947 cites W2026537232 @default.
• W2021491947 cites W2027998177 @default.
• W2021491947 cites W2032669454 @default.
• W2021491947 cites W2042703141 @default.
• W2021491947 cites W2045666881 @default.
• W2021491947 cites W20497567 @default.
• W2021491947 cites W2055022191 @default.
• W2021491947 cites W2080137691 @default.
• W2021491947 cites W2087460037 @default.
• W2021491947 cites W2092724794 @default.
• W2021491947 cites W2101887733 @default.
• W2021491947 cites W2109490045 @default.
• W2021491947 cites W2111439770 @default.
• W2021491947 cites W2114225491 @default.
• W2021491947 cites W2118834362 @default.
• W2021491947 cites W2124105931 @default.
• W2021491947 cites W2126003088 @default.
• W2021491947 cites W2128884353 @default.
• W2021491947 cites W2138539875 @default.
• W2021491947 cites W2140036896 @default.
• W2021491947 cites W2144899009 @default.
• W2021491947 cites W2160368809 @default.
• W2021491947 cites W2161219282 @default.
• W2021491947 cites W2169412991 @default.
• W2021491947 cites W2176563992 @default.
• W2021491947 cites W2342224299 @default.
• W2021491947 cites W291775309 @default.
• W2021491947 cites W4233807360 @default.
• W2021491947 cites W4242509748 @default.
• W2021491947 doi "https://doi.org/10.1086/301827" @default.
• W2021491947 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1377084" @default.
• W2021491947 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9545397" @default.
• W2021491947 hasPublicationYear "1998" @default.
• W2021491947 type Work @default.
• W2021491947 sameAs 2021491947 @default.
• W2021491947 citedByCount "162" @default.
• W2021491947 countsByYear W20214919472012 @default.
• W2021491947 countsByYear W20214919472013 @default.
• W2021491947 countsByYear W20214919472014 @default.
• W2021491947 countsByYear W20214919472015 @default.
• W2021491947 countsByYear W20214919472016 @default.
• W2021491947 countsByYear W20214919472017 @default.
• W2021491947 countsByYear W20214919472018 @default.
• W2021491947 countsByYear W20214919472019 @default.
• W2021491947 countsByYear W20214919472021 @default.
• W2021491947 countsByYear W20214919472022 @default.
• W2021491947 crossrefType "journal-article" @default.
• W2021491947 hasAuthorship W2021491947A5000612576 @default.
• W2021491947 hasAuthorship W2021491947A5020596201 @default.
• W2021491947 hasAuthorship W2021491947A5039639102 @default.
• W2021491947 hasAuthorship W2021491947A5050022117 @default.
• W2021491947 hasAuthorship W2021491947A5068732023 @default.
• W2021491947 hasAuthorship W2021491947A5073905238 @default.
• W2021491947 hasBestOaLocation W20214919471 @default.
• W2021491947 hasConcept C101434241 @default.
• W2021491947 hasConcept C102744134 @default.
• W2021491947 hasConcept C104317684 @default.
• W2021491947 hasConcept C112212490 @default.
• W2021491947 hasConcept C141231307 @default.
• W2021491947 hasConcept C148196450 @default.
• W2021491947 hasConcept C156695909 @default.
• W2021491947 hasConcept C29511175 @default.
• W2021491947 hasConcept C40767141 @default.
• W2021491947 hasConcept C54355233 @default.
• W2021491947 hasConcept C64894306 @default.
• W2021491947 hasConcept C7602840 @default.
• W2021491947 hasConcept C82040048 @default.
• W2021491947 hasConcept C86803240 @default.
• W2021491947 hasConceptScore W2021491947C101434241 @default.
• W2021491947 hasConceptScore W2021491947C102744134 @default.
• W2021491947 hasConceptScore W2021491947C104317684 @default.

• next