Transmission of a fully functional human neocentromere through three generations

Article Abstract:

A fully functional human neocentromere has been transmitted through three generations. Neocentromeres can be normally transmitted at meiosis. An unusual Y chromosome with a primary constriction inside the long-arm heterochromatin was discovered in amniocytes of a woman aged 38. Since it was also found in her husband and brother-in-law, it was present in the father. The Y chromosome seems to have been deleted for part of the alphoid DNA, likely silencing the normal centromere. Neocentromere activation might have taken place first and brought on inactivation of the normal centromere through partial deletion.

Research, DNA, Evolution (Biology), Evolution, Chromosome replication, Genetic research, Meiosis

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Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess

Article Abstract:

The molecular basis for hypertension has been studied in the 'type II variant' of apparent mineralocorticoid excess (AME) syndrome, a heritable hypertension type in which cortisol functions as a potent mineralocorticoid. The heterozygote state was phenotypically normal. It was however associated with subtle defects in cortisol metabolism. Hypertensive groups should be screened to find prevalence of milder defects in 11 beta-HSD2 in patients who have what is considered essential hypertension.

United States, Australia, Physiological aspects, Hydrocortisone

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An extreme-sib-pair genome scan for genes regulating blood pressure

Article Abstract:

A genome scan for linkage has been conducted with sib pairs exhibiting extreme phenotypes in Anqing, China. The sample included 207 discordant, 258 high concordant and 99 low concordant sib pairs along with data from all but one of their parents. A total of 367 polymorphic markers were examined. In the primary analysis, five markers had maximum LOD-score values greater than 2.0. Secondary analyses identified additional candidate regions.

China, Blood pressure, Blood pressure regulation

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