CTCF proteins tagged posts

3D map of Human Genome reveals Relationship between Mutations and Disease Development

In this schematic of a chromosome's 3D structure, the DNA loops (black) are anchored by CTCF proteins (purple) at their bases. Regulatory elements, called enhancers (red) only affect the genes (black arrows) that reside in the loops with them. The protein cohesin (blue rings) forms the looped structures. Credit: Courtesy of Cell Press

In this schematic of a chromosome’s 3D structure, the DNA loops (black) are anchored by CTCF proteins (purple) at their bases. Regulatory elements, called enhancers (red) only affect the genes (black arrows) that reside in the loops with them. The protein cohesin (blue rings) forms the looped structures. Credit: Courtesy of Cell Press

A map has been created of the DNA loops that comprise 3D structure of the human genome and contribute to gene regulation in human embryonic stem cells. The location of genes and regulatory elements within this chromosomal framework will help scientists better navigate their genomic research, establishing relationships between mutations and disease development.

This is transformational,” says Whitehead Member Richard Young...

Read More