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- W2296901938 abstract "Mutations in the TRPS1 gene cause the tricho-rhino-phalangeal-syndrome (TRPS) type I and III, which are characterized by craniofacial and skeletal defects. The gene encodes a transcription factor that has a GATA-binding zinc finger and represses GATA-regulated gene expression. Mutation analysis of TRPS type I patients helped to identify the nuclear localization signal of TRPS1.To study the pathogenesis of TRPS, a TRPS1 transgenic mouse model expressing a potentially dominant negative TRPS1 allele in chondrocytes was generated. However, the mice expressed the transgene at a low rate only, and even adult mice did not show the typical brachydactyly or growth retardation.For identifying genes that are directly and indirectly regulated by TRPS1 two different strategies were followed. (I) A combination of RNA interference-mediated Trps1 silencing and cDNA microarray analysis allowed the identification of putative downstream genes of Trps1 in mouse NIH3T3 cells. Several genes overexpressed in cells where Trps1 was silenced are involved in the control of cell cycle progression or apoptosis.(II) Expression profiles of normal mouse embryonic limbs and snouts were compared with embryonic limbs and snouts of mice carrying a targeted deletion of the Trps1 GATA zinc finger. Several downstream genes implicated in cell cycle control, signal transduction, cell organization and transcription regulation were identified, and their relative expression values were verified by real-time PCR. Luciferase reporter-gene assays allowed the identification of the first potential TRPS1 target genes, LAPTM4b and HSPG2. Both promoters contain GATA motifs and can be repressed by TRPS1. LAPTM4b (lysosomal-associated transmembrane protein 4b) is probably involved in cell cycle control. HSPG2 codes for perlecan, the major heparan sulfate proteoglycan in the cartilage matrix.These findings suggest a role for Trps1 in the regulation of cell cycle control and in the maintenance of cell-matrix interactions." @default.
- W2296901938 created "2016-06-24" @default.
- W2296901938 creator A5091481112 @default.
- W2296901938 date "2005-06-30" @default.
- W2296901938 modified "2023-09-27" @default.
- W2296901938 title "Identification of downstream genes of the TRPS1 transcription factor" @default.
- W2296901938 cites W102404640 @default.
- W2296901938 cites W102776236 @default.
- W2296901938 cites W1495586747 @default.
- W2296901938 cites W1514292333 @default.
- W2296901938 cites W1518586105 @default.
- W2296901938 cites W1520739369 @default.
- W2296901938 cites W1545575244 @default.
- W2296901938 cites W1566845359 @default.
- W2296901938 cites W1567031446 @default.
- W2296901938 cites W1569766571 @default.
- W2296901938 cites W1571217264 @default.
- W2296901938 cites W1573495239 @default.
- W2296901938 cites W1574722884 @default.
- W2296901938 cites W1584759442 @default.
- W2296901938 cites W1611419331 @default.
- W2296901938 cites W1912058552 @default.
- W2296901938 cites W1920137918 @default.
- W2296901938 cites W1965584762 @default.
- W2296901938 cites W1966627703 @default.
- W2296901938 cites W1967121358 @default.
- W2296901938 cites W1969588574 @default.
- W2296901938 cites W1970102692 @default.
- W2296901938 cites W1971325550 @default.
- W2296901938 cites W1972979483 @default.
- W2296901938 cites W1973295687 @default.
- W2296901938 cites W1974305316 @default.
- W2296901938 cites W1975522586 @default.
- W2296901938 cites W1977967095 @default.
- W2296901938 cites W1978234864 @default.
- W2296901938 cites W1979710500 @default.
- W2296901938 cites W1981166298 @default.
- W2296901938 cites W1988929732 @default.
- W2296901938 cites W1995499476 @default.
- W2296901938 cites W1996856903 @default.
- W2296901938 cites W1997812904 @default.
- W2296901938 cites W2004014964 @default.
- W2296901938 cites W2005609015 @default.
- W2296901938 cites W2007755400 @default.
- W2296901938 cites W2008251866 @default.
- W2296901938 cites W2010324176 @default.
- W2296901938 cites W2012013049 @default.
- W2296901938 cites W2013159955 @default.
- W2296901938 cites W2013714561 @default.
- W2296901938 cites W2015943575 @default.
- W2296901938 cites W2017604635 @default.
- W2296901938 cites W2018041776 @default.
- W2296901938 cites W2022809398 @default.
- W2296901938 cites W2023973797 @default.
- W2296901938 cites W2025046506 @default.
- W2296901938 cites W2025950270 @default.
- W2296901938 cites W2028243933 @default.
- W2296901938 cites W2028291967 @default.
- W2296901938 cites W2031665650 @default.
- W2296901938 cites W2032061938 @default.
- W2296901938 cites W2034432297 @default.
- W2296901938 cites W2035396256 @default.
- W2296901938 cites W2037076508 @default.
- W2296901938 cites W2037281919 @default.
- W2296901938 cites W2042932723 @default.
- W2296901938 cites W2045965305 @default.
- W2296901938 cites W2047721737 @default.
- W2296901938 cites W2048234927 @default.
- W2296901938 cites W2049961844 @default.
- W2296901938 cites W2050982339 @default.
- W2296901938 cites W2051270234 @default.
- W2296901938 cites W2055305620 @default.
- W2296901938 cites W2055566195 @default.
- W2296901938 cites W2057278734 @default.
- W2296901938 cites W2059562380 @default.
- W2296901938 cites W2060109348 @default.
- W2296901938 cites W2063098208 @default.
- W2296901938 cites W2063816440 @default.
- W2296901938 cites W2065189089 @default.
- W2296901938 cites W2083503468 @default.
- W2296901938 cites W2083555035 @default.
- W2296901938 cites W2085530184 @default.
- W2296901938 cites W2085807801 @default.
- W2296901938 cites W2085871516 @default.
- W2296901938 cites W2090982434 @default.
- W2296901938 cites W2092261637 @default.
- W2296901938 cites W2093831365 @default.
- W2296901938 cites W2094678479 @default.
- W2296901938 cites W2094849917 @default.
- W2296901938 cites W2095373191 @default.
- W2296901938 cites W2098100188 @default.
- W2296901938 cites W2099410181 @default.
- W2296901938 cites W2102195283 @default.
- W2296901938 cites W2102894828 @default.
- W2296901938 cites W2107235611 @default.
- W2296901938 cites W2107277218 @default.
- W2296901938 cites W2108173771 @default.
- W2296901938 cites W2110606946 @default.
- W2296901938 cites W2113236573 @default.
- W2296901938 cites W2120609024 @default.