Retrotransposon Activates Ectopic Ptf1 Expression: A Short Tail
نویسندگان
چکیده
منابع مشابه
Retrotransposon Activates Ectopic Ptf1 Expression: A Short Tail
In 1925, Charles Danforth wrote about ‘‘mice with six legs [that] appeared about two years ago in a stock which had descended from five individuals and had been inbred for several generations’’ [1]. Danforth studied this ‘‘duplicitas posterior’’ (including duplication of internal and external urogenital organs, with quadrilateral symmetry) and its genetic transmission for several years [2], but...
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Danforth's short tail mutant (Sd) mouse, first described in 1930, is a classic spontaneous mutant exhibiting defects of the axial skeleton, hindgut, and urogenital system. We used meiotic mapping in 1,497 segregants to localize the mutation to a 42.8-kb intergenic segment on chromosome 2. Resequencing of this region identified an 8.5-kb early retrotransposon (ETn) insertion within the highly co...
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The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation syndromes including urorectal septum malformation, caudal regression, VACTERL as...
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Danforth's short tail (Sd) is a semidominant mutation on mouse chromosome 2, characterized by spinal defects, urogenital defects, and anorectal malformations. However, the gene responsible for the Sd phenotype was unknown. In this study, we identified the molecular basis of the Sd mutation. By positional cloning, we identified the insertion of an early transposon in the Sd candidate locus appro...
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The callipyge phenotype is an ovine muscular hypertrophy characterized by polar overdominance: only heterozygous +Mat/CLPGPat animals receiving the CLPG mutation from their father express the phenotype. +Mat/CLPGPat animals are characterized by postnatal, ectopic expression of Delta-like 1 homologue (DLK1) and Paternally expressed gene 11/Retrotransposon-like 1 (PEG11/RTL1) proteins in skeletal...
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ژورنال
عنوان ژورنال: PLoS Genetics
سال: 2013
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003331