FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1975823415> ?p ?o ?g. }

• W1975823415 endingPage "6056" @default.
• W1975823415 startingPage "6051" @default.
• W1975823415 abstract "Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 ( FGFR2 ) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father. We previously demonstrated high levels of both 755C>G and 755C>T FGFR2 mutations in human sperm and proposed that these particular mutations are enriched because the encoded proteins confer a selective advantage to spermatogonial cells. Here, we examine three corollaries of this hypothesis. First, we show that mutation levels at the adjacent FGFR2 nucleotides 752-754 are low, excluding any general increase in local mutation rate. Second, we present three instances of double-nucleotide changes involving 755C, expected to be extremely rare as chance events. Two of these double-nucleotide substitutions are shown, either by assessment of the pedigree or by direct analysis of sperm, to have arisen in sequential steps; the third (encoding Ser252Tyr) was predicted from structural considerations. Finally, we demonstrate that both major alternative spliceforms of FGFR2 ( Fgfr2b and Fgfr2c ) are expressed in rat spermatogonial stem cell lines. Taken together, these observations show that specific FGFR2 mutations attain high levels in sperm because they encode proteins with gain-of-function properties, favoring clonal expansion of mutant spermatogonial cells. Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms." @default.
• W1975823415 created "2016-06-24" @default.
• W1975823415 creator A5000481707 @default.
• W1975823415 creator A5015376243 @default.
• W1975823415 creator A5016697637 @default.
• W1975823415 creator A5029411940 @default.
• W1975823415 creator A5055162786 @default.
• W1975823415 creator A5065672403 @default.
• W1975823415 creator A5018366406 @default.
• W1975823415 date "2005-04-19" @default.
• W1975823415 modified "2023-09-23" @default.
• W1975823415 title "Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia" @default.
• W1975823415 cites W14368480 @default.
• W1975823415 cites W1505574847 @default.
• W1975823415 cites W1564231696 @default.
• W1975823415 cites W1946788805 @default.
• W1975823415 cites W1964605565 @default.
• W1975823415 cites W1965881002 @default.
• W1975823415 cites W1967531836 @default.
• W1975823415 cites W1977577624 @default.
• W1975823415 cites W1989344307 @default.
• W1975823415 cites W1990227364 @default.
• W1975823415 cites W1992354899 @default.
• W1975823415 cites W1997541516 @default.
• W1975823415 cites W2003392046 @default.
• W1975823415 cites W2007346530 @default.
• W1975823415 cites W2013977089 @default.
• W1975823415 cites W2027770279 @default.
• W1975823415 cites W2031263707 @default.
• W1975823415 cites W2035529654 @default.
• W1975823415 cites W2042903453 @default.
• W1975823415 cites W2047410473 @default.
• W1975823415 cites W2048650610 @default.
• W1975823415 cites W2055373079 @default.
• W1975823415 cites W2067732333 @default.
• W1975823415 cites W2069781632 @default.
• W1975823415 cites W2072218208 @default.
• W1975823415 cites W2072303535 @default.
• W1975823415 cites W2073966710 @default.
• W1975823415 cites W2077751281 @default.
• W1975823415 cites W2085494643 @default.
• W1975823415 cites W2097198261 @default.
• W1975823415 cites W2102465334 @default.
• W1975823415 cites W2103432148 @default.
• W1975823415 cites W2110804359 @default.
• W1975823415 cites W2112364863 @default.
• W1975823415 cites W2121751942 @default.
• W1975823415 cites W2122333508 @default.
• W1975823415 cites W2123080551 @default.
• W1975823415 cites W2123238321 @default.
• W1975823415 cites W2125025314 @default.
• W1975823415 cites W2132629764 @default.
• W1975823415 cites W2149943693 @default.
• W1975823415 cites W2153429518 @default.
• W1975823415 cites W2163155435 @default.
• W1975823415 cites W2163846802 @default.
• W1975823415 cites W1986850625 @default.
• W1975823415 doi "https://doi.org/10.1073/pnas.0500267102" @default.
• W1975823415 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1087921" @default.
• W1975823415 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15840724" @default.
• W1975823415 hasPublicationYear "2005" @default.
• W1975823415 type Work @default.
• W1975823415 sameAs 1975823415 @default.
• W1975823415 citedByCount "131" @default.
• W1975823415 countsByYear W19758234152012 @default.
• W1975823415 countsByYear W19758234152013 @default.
• W1975823415 countsByYear W19758234152014 @default.
• W1975823415 countsByYear W19758234152015 @default.
• W1975823415 countsByYear W19758234152016 @default.
• W1975823415 countsByYear W19758234152017 @default.
• W1975823415 countsByYear W19758234152018 @default.
• W1975823415 countsByYear W19758234152019 @default.
• W1975823415 countsByYear W19758234152020 @default.
• W1975823415 countsByYear W19758234152021 @default.
• W1975823415 countsByYear W19758234152022 @default.
• W1975823415 crossrefType "journal-article" @default.
• W1975823415 hasAuthorship W1975823415A5000481707 @default.
• W1975823415 hasAuthorship W1975823415A5015376243 @default.
• W1975823415 hasAuthorship W1975823415A5016697637 @default.
• W1975823415 hasAuthorship W1975823415A5018366406 @default.
• W1975823415 hasAuthorship W1975823415A5029411940 @default.
• W1975823415 hasAuthorship W1975823415A5055162786 @default.
• W1975823415 hasAuthorship W1975823415A5065672403 @default.
• W1975823415 hasBestOaLocation W19758234152 @default.
• W1975823415 hasConcept C104317684 @default.
• W1975823415 hasConcept C14036430 @default.
• W1975823415 hasConcept C143065580 @default.
• W1975823415 hasConcept C176944494 @default.
• W1975823415 hasConcept C2781087480 @default.
• W1975823415 hasConcept C501734568 @default.
• W1975823415 hasConcept C512185932 @default.
• W1975823415 hasConcept C54355233 @default.
• W1975823415 hasConcept C86803240 @default.
• W1975823415 hasConcept C98638677 @default.
• W1975823415 hasConceptScore W1975823415C104317684 @default.
• W1975823415 hasConceptScore W1975823415C14036430 @default.
• W1975823415 hasConceptScore W1975823415C143065580 @default.
• W1975823415 hasConceptScore W1975823415C176944494 @default.

• next