Rat hypodactyly (hd) is an autosomal recessive mutation manifesting in homozygotes as reduction or loss of digits II and III. We mapped the hd allele to a short segment of chromosome 10, containing 16 genes. None of these genes has been shown to influence limb development yet. In situ hybridization showed no changes in several important patterning genes (Shh, Fgf8, Bmp2, 4, 7). However, we found that expression of cartilage condensation marker Sox9, and Bmp receptor Bmpr1b (acting as an upstream activator of Sox9 expression) is absent from the subepithelial mesenchyme of the digit condensations II and III. The failure of the chondrogenic condensations to extend towards the subepithelial mesenchyme may reduce the size of digit primordia and underlie the subsequent loss of phalanges and reduction of metacarpals/metatarsals in hd rats.
- MeSH
- embryo savčí anatomie a histologie metabolismus MeSH
- fenotyp MeSH
- financování organizované MeSH
- homeodoménové proteiny genetika metabolismus MeSH
- končetinové pupeny abnormality metabolismus MeSH
- končetiny MeSH
- krysa rodu rattus MeSH
- mutace MeSH
- potkani Wistar MeSH
- receptory morfogenetických kostních proteinů typu I genetika metabolismus MeSH
- rozvržení tělního plánu genetika MeSH
- transkripční faktor SOX9 genetika metabolismus MeSH
- vývojová regulace genové exprese MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
To identify renally expressed genes that influence risk for hypertension, we integrated expression quantitative trait locus (QTL) analysis of the kidney with genome-wide correlation analysis of renal expression profiles and blood pressure in recombinant inbred strains derived from the spontaneously hypertensive rat (SHR). This strategy, together with renal transplantation studies in SHR progenitor, transgenic and congenic strains, identified deficient renal expression of Cd36 encoding fatty acid translocase as a genetically determined risk factor for spontaneous hypertension.
- MeSH
- genetická vazba MeSH
- globulin vázající pohlavní hormony genetika MeSH
- krysa rodu rattus MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- regulace genové exprese imunologie MeSH
- sekvence nukleotidů MeSH
- vrozené deformity nohy (od hlezna dolů) genetika MeSH
- vrozené deformity ruky genetika MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- zvířata MeSH
- Publikační typ
- abstrakt z konference MeSH
