Goodwin, Z. A. | Search bioRxiv

bioRxiv2022

Molecular analyses place the genus Keraunea outside Convolvulaceae

The genus Keraunea was recently described in the Convolvulaceae Juss. family. Two species are currently recognised, both from Brazil. Molecular sequence data using three commonly applied DNA markers (matK, rbcL and the nuclear ribosomal Internal Transcribed Spacer) show that neither species is correctly placed in Convolvulaceae but indicates that the type, K. brasiliensis, should be placed in Malpighiaceae despite several morphological anomalies. The second species, K. capixaba, should be placed in Ehretiaceae. Given the surprising nature of these results, further studies are recommended before formal reclassification of these two taxa is made.

evolutionary biology↗

bioRxiv2019

An enhancer:involucrin regulatory module impacts human skin barrier adaptation out-of-Africa and modifies atopic dermatitis risk

The genetic modules that contribute to human evolution are poorly understood. We identified positive selection for two independent involucrin (IVL) haplotypes in European (CEU) and Asian (JPT/CHB) populations for skin epidermis. CEU IVL associated with increased IVL and a known epidermal-specific enhancer underwent a recent selective sweep out-of-Africa correlating with increased northern latitude. CRISPR/Cas9 deletion of the mouse enhancer revealed enhancer-mediated cis regulation for Ivl expression with human population-specific enhancer reporter assays confirming the additive effect. Furthermore, IVL enhancer eQTLs associated with decreased IVL together with filaggrin loss-of-function variants are enriched in atopic dermatitis cases vs. controls. Together, our enhancer-IVL cis regulatory module findings reveal an emerging paradigm for recently evolved traits to impact skin disease risk in contemporary populations.

genetics↗