Such dramatic effects on brain size and function are unlikely in human carriers of BRCA1 mutations, the authors of the study note, but they propose the findings could shed light on the gene's role in brain evolution.
Due to the heterogeneity of the identified mutations, the authors could only imply previously not associated genes as causative based on de novo truncating mutations.
To test whether the effects of Cdo mutation can be modified by other silent mutations, the authors constructed mice with a null mutation of Boc, a close relative of Cdo.
Yet the small, but perhaps more interesting, percentage of miRNA mutations the authors identified that do lie within this region might affect miRNA functions, and seem to deviate from Hardy-Weinberg equilibrium.
In addressing the surprising finding of two unaffected parents carrying the same mutation, the authors do not address the possibility of post zygotic somatic mosaicism.
In another metastatic lesion harboring the ER Y537C mutation, the authors were able to sequence tissue from the same metastatic site at two different time points.
In most of the research articles where storage proteins of cereals were silenced by RNAi or mutation, the authors reported either a decrease or no variation in the total protein content [ 19- 24] reported an overall increase of total protein in lines transformed with the 'g' antisense fragment, which agree with the data reported in this work.
That mutation, which the author calls EOA-23, "sealed itself into the genome of the duke (and all of those to follow), like a jacket's zipper pulled up too quickly in a frigid gust, which is only one or two teeth away from its original, intended configuration but which — from that instant onward — may never be unzipped again".
Standard HGVS nomenclature should be followed for all the mutations and the authors should preferably stick to one format i.e. either DNA or protein notation.
In their original paper Albert [ 2] studied the influence on the dynamics of the network arising from four experimentally studied perturbations of the network (called mutations by the authors) involving the nodes S1P, PA, ABI1 and pHc.
