IRP researchers generate complete human X chromosome sequence

The accomplishment opens a new era in genomics research

Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have produced the first end-to-end DNA sequence of a human chromosome. The results, published today in Nature, show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.

Humans have two sets of chromosomes, one set from each parent. For example, biologically female humans inherit two X chromosomes, one from their mother and one from their father. However, those two X chromosomes are not identical and will contain many differences in their DNA sequences.

In this study, researchers did not sequence the X chromosome from a normal human cell. Instead, they used a special cell type – one that has two identical X chromosomes. Such a cell provides more DNA for sequencing than a male cell, which has only a single copy of an X chromosome. It also avoids sequence differences encountered when analyzing two X chromosomes of a typical female cell.

Read more View All News

This page was last updated on Friday, January 21, 2022