Title

The X chromosome from telomere to telomere: key achievements and future opportunities.

Document Type

Article

Publication Date

7-30-2021

Publication Title

Fac Rev

Keywords

JGM

JAX Source

Fac Rev 2021 Jul 30; 10:63

Volume

10

First Page

63

Last Page

63

ISSN

2732-432X

PMID

35088059

DOI

https://doi.org/10.12703/r-01-000001

Abstract

While the human genome represents the most accurate vertebrate reference assembly to date, it still contains numerous gaps, including centromeric and other large repeat-containing regions - often termed the "dark side" of the genome - many of which are of fundamental biological importance. Miga et al.1,2 present the first gapless assembly of the human X chromosome, with the help of ultra-long-read nanopore reads generated for the haploid complete hydatidiform mole (CHM13) genome. They reconstruct the ~3.1 megabase centromeric satellite DNA array and map DNA methylation patterns across complex tandem repeats and satellite arrays. This Telomere-to-Telomere assembly provides a superior human X chromosome reference enabling future sex-determination and X-linked disease research, and provides a path towards finishing the entire human genome sequence.

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