Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing PKD and hemolytic anemia of variable severity. Alu retrotransposons are the most abundant mobile DNA sequences in the human genome, contributing to almost 11% of its mass.

Extensive error in the number of genes inferred from draft genome assemblies.

Current sequencing methods produce large amounts of data, but genome assemblies based on these data are often woefully incomplete. These incomplete and error-filled assemblies result in many annotation errors, especially in the number of genes present in a genome. In this paper we investigate the magnitude of the problem, both in terms of total gene number and the number of copies of genes in specific families.

Kinematic, kinetic, and blood lactate profiles of continuous and intraset rest loading schemes.

The purpose of this study was to investigate and compare the acute kinematic, kinetic, and blood lactate responses to continuous and intraset rest loading schemes that differed in terms of rest frequency but not total rest duration. Nine male subjects performed an isoinertial bench press task (6 repetition maximum load) with a continuous, an intraset rest equated by total rest time, volume, and load (ISRV), and an intraset rest equated by total rest time and load (ISRR) loading scheme. The scheme order was assigned in a block-randomized order with a minimum of 48 hours of recovery between testing sessions.