OBJECTIVES Early life stress is known to have enduring biological effects, particularly with respect to health. Epigenetic modifications, such as DNA methylation, are a possible mechanism to mediate the biological effect of stress. We previously found correlations between maternal stress, newborn birthweight, and genome-wide measures of DNA methylation. Here we investigate ten genes related to ...

Reactivation of fetal haemoglobin (HbF) expression is an effective way to treat β-thalassaemia and sickle cell anaemia. In the present study, we identified a novel GATA zinc finger domain-containing protein 2A (GATAD2A) mutation, which contributed elevation HbF ameliorated clinical severity in patient with β-thalassaemia, by targeted next-generation sequencing. Knockout GATAD2A led significant ...

This study is focused on a translationally significant, genome-wide-association-study (GWAS) locus for cardiovascular disease (QT-interval) on human chromosome 17. We have previously validated and high resolution mapped the homologous genomic segment of this human locus to <42.5 kb on rat chromosome 10. This <42.5 kb segment in rats regulates both QT-interval and blood pressure and contains a s...

Abstract Metastasis is responsible for the majority of breast cancer–related deaths, however, mechanisms underlying metastasis in this disease remain largely elusive. Here we report that under hypoxic conditions, alternative splicing MBD2 suppressed, favoring production MBD2a, which facilitates cancer metastasis. Specifically, MBD2a promoted, whereas its lesser known short form MBD2c suppressed...