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Over half a century ago, scientists realized that's because the sickle cell mutation affects only the "adult" version of hemoglobin.
In rice, initiation of crown roots is normal in the Lrt1 mutant [6, 31], suggesting that the dominant Lrt1 mutation affects only lateral root development and that lateral and crown root formation can be genetically resolved.
Interestingly, the H479Q mutation affects only slightly the copper-dependent pNPPase activity, while it inhibits strongly the ATPase activity.
The necessary threshold level of RUNX1 expression is likely to be cell-specific, explaining why RUNX1 heterozygous mutation affects only hematopoietic cells; nevertheless, our observations could conceivably suggest possible involvement of RUNX1 in solid-tissue tumor.
Our analyses also revealed a significant interaction effect of genotype and day on the use of directed search strategies (F4,36 = 4.92, P = 0.014), indicating that the mutation affects only specific aspects of water maze acquisition.
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Unlike the Mmp9 –/– and Mmp13 –/ mutations, which affected both cartilage and bone tissues during fracture repair, the Mmp2 –/– mutation affected only the bone compartment of the fracture callus.
The fact that the G464R mutation affecting only SynIIa, but not SynIIb, had a stronger impact on neuronal development compared with the Y236S-hSyn II mutant further indicates that SynIIa may be sufficient to perform all functions of the SYN2 gene, as previously reported (68).
Of note, the disruption of GcvB-SroC pairing by point mutations affects only the stability of GcvB, suggesting that SroC does not undergo coupled degradation with its partner RNA by RNase E as previously seen with Hfq-dependent sRNA-mRNA pairs (Massé et al, 2003).
The mutational profile of IDH1 and IDH2 is peculiar as the mutations affect only single evolutionarily conserved residues (arginines R132 and R172, respectively).
Local mutations affect only a small number of nucleotides and include nucleotide substitution and insertion or deletion of nucleotides.
These mutations affect only transcriptional repression by MeCP2, preventing it from binding to methylated DNA and from recruiting repressor partners, but the other functions of the protein are not affected, particularly its capacity to silence gene expression by driving chromatin condensation [30], [60] and stabilising large silencing chromatin loops [31].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com