A systematic approach to mapping recessive disease genes in individuals from outbred populations.

The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred populations. In 72 individuals of 54 kindred ascertained worldwide with known homozygous mutations in 13 different recessive disease genes, we performed total genome homozygosity mapping using 250,000 SNP arrays.

Parabens inhibit human skin estrogen sulfotransferase activity: possible link to paraben estrogenic effects.

Parabens (p-hydroxybenzoate esters) are a group of widely used preservatives in topically applied cosmetic and pharmaceutical products. Parabens display weak associations with the estrogen receptors in vitro or in cell based models, but do exhibit estrogenic effects in animal models. It is our hypothesis that parabens exert their estrogenic effects, in part, by elevating levels of estrogens through inhibition of estrogen sulfotransferases (SULTs) in skin.

Comparison of paraben stability in human and rat skin.

Parabens are widely used preservatives in topical products, and are estrogenic in numerous experimental models. The typical cutaneous metabolism model, rat skin, hydrolyzes parabens much faster than human skin. Chronic application and absorption of parabens, combined with low metabolism rates, may lead to prolonged estrogenic effects in the skin.