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• W2108872824 endingPage "579" @default.
• W2108872824 startingPage "563" @default.
• W2108872824 abstract "In metazoans, bone morphogenetic proteins (BMPs) direct a myriad of developmental and adult homeostatic events through their heterotetrameric type I and type II receptor complexes. We examined 3 existing and 12 newly generated mutations in the Drosophila type I receptor gene, saxophone (sax), the ortholog of the human Activin Receptor-Like Kinase1 and -2 (ALK1/ACVRL1 and ALK2/ACVR1) genes. Our genetic analyses identified two distinct classes of sax alleles. The first class consists of homozygous viable gain-of-function (GOF) alleles that exhibit (1) synthetic lethality in combination with mutations in BMP pathway components, and (2) significant maternal effect lethality that can be rescued by an increased dosage of the BMP encoding gene, dpp+. In contrast, the second class consists of alleles that are recessive lethal and do not exhibit lethality in combination with mutations in other BMP pathway components. The alleles in this second class are clearly loss-of-function (LOF) with both complete and partial loss-of-function mutations represented. We find that one allele in the second class of recessive lethals exhibits dominant-negative behavior, albeit distinct from the GOF activity of the first class of viable alleles. On the basis of the fact that the first class of viable alleles can be reverted to lethality and on our ability to independently generate recessive lethal sax mutations, our analysis demonstrates that sax is an essential gene. Consistent with this conclusion, we find that a normal sax transcript is produced by saxP, a viable allele previously reported to be null, and that this allele can be reverted to lethality. Interestingly, we determine that two mutations in the first class of sax alleles show the same amino acid substitutions as mutations in the human receptors ALK1/ACVRl-1 and ACVR1/ALK2, responsible for cases of hereditary hemorrhagic telangiectasia type 2 (HHT2) and fibrodysplasia ossificans progressiva (FOP), respectively. Finally, the data presented here identify different functional requirements for the Sax receptor, support the proposal that Sax participates in a heteromeric receptor complex, and provide a mechanistic framework for future investigations into disease states that arise from defects in BMP/TGF-beta signaling." @default.
• W2108872824 created "2016-06-24" @default.
• W2108872824 creator A5015524604 @default.
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• W2108872824 creator A5074247295 @default.
• W2108872824 creator A5089347334 @default.
• W2108872824 date "2009-10-01" @default.
• W2108872824 modified "2023-10-16" @default.
• W2108872824 title "Functional Analysis of <i>saxophone</i>, the Drosophila Gene Encoding the BMP Type I Receptor Ortholog of Human ALK1/ACVRL1 and ACVR1/ALK2" @default.
• W2108872824 cites W107544894 @default.
• W2108872824 cites W1494055834 @default.
• W2108872824 cites W1517748724 @default.
• W2108872824 cites W1522242926 @default.
• W2108872824 cites W1817981035 @default.
• W2108872824 cites W1837960509 @default.
• W2108872824 cites W1852286056 @default.
• W2108872824 cites W1867994916 @default.
• W2108872824 cites W1881580349 @default.
• W2108872824 cites W1889479151 @default.
• W2108872824 cites W1901279356 @default.
• W2108872824 cites W1911890413 @default.
• W2108872824 cites W1972509609 @default.
• W2108872824 cites W1972937411 @default.
• W2108872824 cites W1972969587 @default.
• W2108872824 cites W1974410953 @default.
• W2108872824 cites W1975304898 @default.
• W2108872824 cites W1976053834 @default.
• W2108872824 cites W1976290150 @default.
• W2108872824 cites W1978146894 @default.
• W2108872824 cites W1978999523 @default.
• W2108872824 cites W1992945955 @default.
• W2108872824 cites W1993038327 @default.
• W2108872824 cites W1996707345 @default.
• W2108872824 cites W1999312339 @default.
• W2108872824 cites W2000390423 @default.
• W2108872824 cites W2003070261 @default.
• W2108872824 cites W2009629707 @default.
• W2108872824 cites W2011193034 @default.
• W2108872824 cites W2011866129 @default.
• W2108872824 cites W2014414419 @default.
• W2108872824 cites W2014866286 @default.
• W2108872824 cites W2016232806 @default.
• W2108872824 cites W2019400355 @default.
• W2108872824 cites W2021384992 @default.
• W2108872824 cites W2029307548 @default.
• W2108872824 cites W2031133042 @default.
• W2108872824 cites W2033180366 @default.
• W2108872824 cites W2033412572 @default.
• W2108872824 cites W2035375262 @default.
• W2108872824 cites W2037048003 @default.
• W2108872824 cites W2037587168 @default.
• W2108872824 cites W2046852564 @default.
• W2108872824 cites W2053201547 @default.
• W2108872824 cites W2056020456 @default.
• W2108872824 cites W2057591552 @default.
• W2108872824 cites W2063318299 @default.
• W2108872824 cites W2063789470 @default.
• W2108872824 cites W2065071209 @default.
• W2108872824 cites W2068710873 @default.
• W2108872824 cites W2075231538 @default.
• W2108872824 cites W2078107700 @default.
• W2108872824 cites W2078774618 @default.
• W2108872824 cites W2081683970 @default.
• W2108872824 cites W2081689397 @default.
• W2108872824 cites W2084866479 @default.
• W2108872824 cites W2086530893 @default.
• W2108872824 cites W2089545402 @default.
• W2108872824 cites W2091260402 @default.
• W2108872824 cites W2092386534 @default.
• W2108872824 cites W2114188747 @default.
• W2108872824 cites W2114232003 @default.
• W2108872824 cites W2115340713 @default.
• W2108872824 cites W2117924228 @default.
• W2108872824 cites W2118962421 @default.
• W2108872824 cites W2122841055 @default.
• W2108872824 cites W2127987208 @default.
• W2108872824 cites W2128652025 @default.
• W2108872824 cites W2130006359 @default.
• W2108872824 cites W2136481271 @default.
• W2108872824 cites W2138222765 @default.
• W2108872824 cites W2138637254 @default.
• W2108872824 cites W2150776265 @default.
• W2108872824 cites W2150881063 @default.
• W2108872824 cites W2154568166 @default.
• W2108872824 cites W2154767933 @default.
• W2108872824 cites W2157292965 @default.
• W2108872824 cites W2159494508 @default.
• W2108872824 cites W2163504684 @default.
• W2108872824 cites W2169237074 @default.
• W2108872824 cites W2169694008 @default.
• W2108872824 cites W2176040458 @default.
• W2108872824 cites W2181592269 @default.
• W2108872824 cites W2183101699 @default.
• W2108872824 cites W30108092 @default.
• W2108872824 cites W4241769806 @default.
• W2108872824 doi "https://doi.org/10.1534/genetics.109.105585" @default.

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