The Microcephalin Ancestral Allele in a Neanderthal Individual

Background: The high frequency (around 0.70 worlwide) and the relatively young age (between 14,000 and 62,000 years) of a derived group of haplotypes, haplogroup D, at the microcephalin (MCPH1) locus led to the proposal that haplogroup D originated in a human lineage that separated from modern humans.1 million years ago, evolved under strong positive selection, and passed into the human gene pool by an episode of admixture circa 37,000 years ago. The geographic distribution of haplogroup D, with marked differences between Africa and Eurasia, suggested that the archaic human form admixing with anatomically modern humans might have been Neanderthal. Methodology/Principal Findings: Here we report the first PCR amplification and high- throughput sequencing of nuclear DNA at the microcephalin (MCPH1) locus from Neanderthal individual from Mezzena Rockshelter (Monti Lessini, Italy). We show that a well-preserved Neanderthal fossil dated at approximately 50,000 years B.P., was homozygous for the ancestral, non-D, allele. The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH

Complications of chronic alcoholism that affect critical illness

[An excerpt from the content] The worldwide consumption of alcohol and alcoholism, or alcohol use disorder (defined as a problematic pattern of alcohol use leading to clinically significant impairment or distress by DSM-5) [1], are increasing [2]. This is particularly so among women as the social stigma surrounding drinking declines and alcohol is more readily accessible. Women are less likely to be diagnosed early and more likely to relapse after treatment. Alcoholism is estimated to cause approximately 2.5 million global deaths annually (4 % of all-cause mortality) which mostly ensue from liver disease [2]. Approximately 90 % of alcoholics develop fatty liver, 25 % develop alcoholic hepatitis, 15 % develop cirrhosis and 10 % develop hepatocellular carcinoma [3, 4]. Alcoholic liver disease (ALD), especially cirrhosis, also accounts for increasing numbers of hospital admissions across the world, including ICU admissions [5, 6]. Each year about 26,000 patients with cirrh ..