The domain also occurs in the mammalian protein fibrocystin, mutation of which leads to autosomal-recessive polycystic kidney and hepatic disease.
Both Tyr260 and the neighboring Arg261, mutation of which completely abrogates activity12, are also very highly conserved (Supplementary Fig. 4) and form multiple noncovalent interactions that further serve to orient both reentrant active site loops (Fig. 2c, d).
SF3b155 residues, the mutation of which leads to cancer, contribute to the tertiary structure of the HEAT superhelix and its surface properties in the proximity of p14 and U2AF65.
While for CpxRA, mutation of which was known to cause hypersensitiveness to several amino acids at an alkaline pH and to aminoglycosides, we here found the system might also be involved in the regulation of ammonium assimilation, and the detailed mechanism could be subject to further investigation.
The X-ray crystal structure of human VDR in complex with 1α,25-dihydroxyvitamin D3 (1) shows that, together with Ser-237, the 1α-hydroxyl group of 1α,25-dihydroxyvitamin D3 (1) makes hydrogen bonds with Arg-274, single mutation of which results in impaired ligand recognition.
Krebs's brain, preserved in slices at a laboratory in Düsseldorf, shows various unusual features.The discovery of the FOXP2 brain gene, a mutation of which can cause language loss, was met with considerable excitement when it was announced over a decade ago.
Enzymes involved in histone methylation usually contain a motif called SET domain, which is named after three Drosophila genes: Su var)3-9, Enhancer of zeste (E(Z)) and Trithorax, the mutation of which either enhance or suppress epigenetic mutations.
Three Arabidopsis LSD1 genes are shown to be involved in flowering regulation, the mutation of which induces H3K4 hyperacetylation and a decrease in H3K27me2 and H3K9me2 on the 5′ region of FLC and produce a later flowering phenotype (Jiang et al. 2007).
Other residues, mutation of which reduced activation potential by 2-HBP, were I56T, E203L, E203Q and E209L (Table 1).
Interestingly, a related JmjC-domain gene has been recently characterized, the mutation of which triggers ectopic cytosine methylation, probably through an increase in H3K9 methylation levels [58].
This interaction is mediated by a CxVxL motif specific to the long isoform, mutation of which abolishes interaction and colocalisation with dHP-1a.
