In Science this week, a multi-institute team of European scientists report the complete reference genome of the almond, as well as an analysis that reveals how it evolved from its bitter wild form to sweet and edible. The scientists identify a 46-kilobase gene cluster encoding five basic helix-loop-helix transcription factors that is associated with sweet kernel genotypes, and find that one of them — called bHLH2 — is involved in the regulation of the toxic compound amygdalin that accumulates in wild almonds and gives them their unpleasant taste. A nonsynonymous point mutation in the dimerization domain of bHLH2 prevents the production of amygdalin, they write, resulting in the sweet kernel trait. GenomeWeb has more on this, here.
And in Science Translational Medicine, a group led by Radboud University researchers describe the identification of a genetic alteration that appears to predispose women to vulvovaginal candidiasis, a fungal infection caused by Candida albicans. The researchers performed genetic sequencing on two independent cohorts of European women with recurrent vulvovaginal candidiasis (RVVC) and healthy controls, and find a variety of genes and cellular processes that contribute to the pathogenesis of RVVC including cellular morphogenesis and metabolism, and cellular adhesion. They identify an alteration in one gene — SIGLEC15 — as associated with a higher risk of RVVC, and find that peripheral blood mononuclear cells with this alteration abnormally high amounts of inflammatory molecules when exposed to C. albicans. Meanwhile, C. albicans exposure in a mouse model of RVVC led to increased SIGLEC15 expression, while the gene's suppression led to an increase in fungal burden." Identification of these pathways and cellular processes contributes to a better understanding of RVVC and may open new therapeutic avenues," the researchers write. GenomeWeb also has more on this study, here.