The transient and specific formation of chromatin loops is known to juxtapose genes and their distant enhancers, thus enabling gene expression. The mechanistic relationship between looping and ...

Mandy Boontanrart, PhD, a postdoc at ETH Zurich in Switzerland, has a particularly personal motivation for her research on a novel genetic therapy for sickle cell disease (SCD). She is a carrier of a ...

The blood protein hemoglobin and its relative, myoglobin, carry and store life-giving oxygen in many animals. Researchers long thought these complex proteins, with their unique fold, were the only two ...

The evolution of biomedical science can be appreciated through studies of hemoglobin, the oxygen-carrying protein in red cells. Before molecular cloning, the geneticist Arno Motulsky noted, “Many ...

FIGURE 1. Distribution of different genotypes with α-globin gene triplication in 73,967 subjects. (A) Gender distribution. (B) The proportion of different genotypes among 1,443 α-globin gene ...

Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements ...

Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and ...