New discoveries fill the gaps in the human genome map

Science and Technology Daily, Beijing, November 15 (intern reporter Zhang Jiaxin) Researchers at the University of California, San Diego (UCSD) produced a single-cell chromatin map of the human genome, which identified 240 polygenic features and disease-related features Cell type, and annotated the risk of non-coding DNA variation, is conducive to a better understanding of the link between genetics and disease
.
This finding was published in the online edition of Cell magazine on the 12th

Previously, when scientists released the latest map of the human genome known as the "Book of Life", more accurate calculations showed that the number of human genes is actually between 20,000 and 25,000
.
However, this estimate does not really explain the exact way in which the protein-coding gene construction process works, or it does not apply to people with diseases

Dr.
Ren Bing (transliteration), professor of cell and molecular medicine at UCSD, member of the Ludwig Institute for Cancer Research, and director of the Epigenomics Center is one of the members of the Encyclopedia of DNA Elements project
.
He said that the human genome was sequenced 20 years ago, but it is still very challenging to interpret the meaning of this "book of life"

DNA carries the genetic instructions of the cell
.
The main proteins in chromatin, called histones, help to tightly pack DNA into a compact form suitable for the nucleus

After studying mice, Ren Bing and his collaborators turned their attention to the single-cell map of chromatin in the human genome
.
They analyzed more than 600,000 human cells sampled from 30 adult tissue types from multiple donors, and then combined this information with similar data from 15 fetal tissue types, revealing 222 different cell types The chromatin state of approximately 1.

The cis-regulatory element is a region of non-coding DNA that regulates the transcription of adjacent genes
.
Studies in the past decade have confirmed that sequence variation in non-coding DNA is a key driver of polygenic features and diseases in the human population, such as diabetes, Alzheimer's and autoimmune diseases