Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern
نویسندگان
چکیده
منابع مشابه
Long-range downstream enhancers are essential for Pax6 expression
Pax6 is a developmental control gene with an essential role in development of the eye, brain and pancreas. Pax6, as many other developmental regulators, depends on a substantial number of cis-regulatory elements in addition to its promoters for correct spatiotemporal and quantitative expression. Here we report on our analysis of a set of mice transgenic for a modified yeast artificial chromosom...
متن کاملDeletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.
Campomelic dysplasia (CD) is a rare, neonatal human chondrodysplasia characterized by bowing of the long bones and often associated with male-to-female sex-reversal. Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of SOX9. Whereas mutations in SOX9 ORF cause haploinsufficiency, the effects of translocations 5' to ...
متن کاملDistinct parasegmental and imaginal enhancers and the establishment of the expression pattern of the Ubx gene.
The expression domain of the Ubx gene in Drosophila embryos is bounded by the product of the hb gene, acting as a repressor. We show that all Ubx fragments that bind Hb protein in vitro contain parasegmental enhancers active in the embryo in specific parasegmental patterns. We have found three new embryonic enhancer elements in the upstream region, in addition to the two previously identified. ...
متن کاملDownstream control of upstream open reading frames.
Department of Environmental and Biomolecular Systems, Oregon Health and Science University, Beaverton, Oregon 97006, USA; Department of Molecular Microbiology and Immunology, Oregon Health and Science University, Portland, Oregon 97201, USA; Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA; Department of Microbiology and De...
متن کاملThe SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers
Two decades after the discovery that heterozygous mutations within and around SOX9 cause campomelic dysplasia, a generalized skeleton malformation syndrome, it is well established that SOX9 is a master transcription factor in chondrocytes. In contrast, the mechanisms whereby translocations in the --350/-50-kb region 5' of SOX9 cause severe disease and whereby SOX9 expression is specified in cho...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2006
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2005.11.013