000125927 001__ 125927
000125927 005__ 20190316234318.0
000125927 0247_ $$2doi$$a10.1007/s00335-008-9106-0
000125927 02470 $$2DAR$$a12563
000125927 02470 $$2ISI$$a000255124500005
000125927 037__ $$aARTICLE
000125927 245__ $$aCharacterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
000125927 269__ $$a2008
000125927 260__ $$c2008
000125927 336__ $$aJournal Articles
000125927 500__ $$aFriedli, Marc Nikolaev, Sergey Lyle, Robert Arcangeli, Melanie Duboule, Denis Spitz, Francois Antonarakis, Stylianos E Research Support, Non-U.S. Gov't United States Mammalian genome : official journal of the International Mammalian Genome Society Mamm Genome. 2008 Apr;19(4):272-8. Epub 2008 Apr 5.
000125927 520__ $$aSHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of about 500 kb at 10q24. The Dactylaplasia mice display equivalent limb defects and the two corresponding alleles (Dac1j and Dac2j) map in the region syntenic with the duplications in SHFM3. Dac1j was shown to be associated with an insertion of an unspecified ETn-like mouse endogenous transposon upstream of the Fbxw4 gene. Dac2j was also thought to be an insertion or a small inversion in intron 5 of Fbxw4, but the breakpoints and the exact molecular lesion have not yet been characterized. Here we report precise mapping and characterization of these alleles. We failed to identify any copy number differences within the SHFM3 orthologous genomic locus between Dac mutant and wild-type littermates, showing that the Dactylaplasia alleles are not associated with duplications of the region, in contrast with the described human SHFM3 cases. We further show that both Dac1j and Dac2j are caused by insertions of MusD retroelements that share 98% sequence identity. The differences between the nature of the human and mouse genomic abnormalities argue against models proposed so far that either envisioned SHFM3 as a local trisomy or Dac as a mutant allele of Fbxw4. Instead, both genetic conditions might lead to complex alterations of gene regulation mechanisms that would impair limb morphogenesis. Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene.
000125927 6531_ $$aAlleles
000125927 6531_ $$aAnimals
000125927 6531_ $$aBase Sequence
000125927 6531_ $$aDisease Models
000125927 6531_ $$aAnimal
000125927 6531_ $$aF-Box Proteins/*genetics
000125927 6531_ $$aGene Duplication
000125927 6531_ $$aHumans
000125927 6531_ $$aLimb Deformities
000125927 6531_ $$aCongenital/*genetics
000125927 6531_ $$aMice/*genetics
000125927 6531_ $$aMolecular Sequence Data
000125927 6531_ $$a*Mutagenesis
000125927 6531_ $$aInsertional
000125927 6531_ $$aPhylogeny
000125927 6531_ $$a*Retroelements
000125927 6531_ $$aSequence Analysis
000125927 6531_ $$aDNA
000125927 6531_ $$aAnimal
000125927 700__ $$aFriedli, M.
000125927 700__ $$aNikolaev, S.
000125927 700__ $$aLyle, R.
000125927 700__ $$aArcangeli, M.
000125927 700__ $$0240276$$aDuboule, D.$$g141236
000125927 700__ $$aSpitz, F.
000125927 700__ $$aAntonarakis, S. E.
000125927 773__ $$j19$$k4$$q272-8$$tMamm Genome
000125927 8564_ $$zURL
000125927 8564_ $$s352620$$uhttps://infoscience.epfl.ch/record/125927/files/2008_Characterization%20of%20mouse%20Dactylaplasia%20mutations.pdf$$zn/a
000125927 909C0 $$0252099$$pUPDUB$$xU11705
000125927 909CO $$ooai:infoscience.tind.io:125927$$pSV$$particle$$qGLOBAL_SET
000125927 937__ $$aUPDUB-ARTICLE-2008-002
000125927 973__ $$aEPFL$$rREVIEWED$$sPUBLISHED
000125927 980__ $$aARTICLE