The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

See on Scoop.itVirology News

The HeLa cell line was established in 1951 from cervical cancer cells taken from a patient, Henrietta Lacks. This was the first successful attempt to immortalize human-derived cells in vitro1. The robust growth and unrestricted distribution of HeLa cells resulted in its broad adoption—both intentionally and through widespread cross-contamination2—and for the past 60 years it has served a role analogous to that of a model organism3. The cumulative impact of the HeLa cell line on research is demonstrated by its occurrence in more than 74,000 PubMed abstracts (approximately 0.3%).

 Haplotype resolution facilitated reconstruction of an amplified, highly rearranged region of chromosome 8q24.21 at which integration of the human papilloma virus type 18 (HPV-18) genome occurred and that is likely to be the event that initiated tumorigenesis. We combined these maps with RNA-seq6and ENCODE Project7 data sets to phase the HeLa epigenome. This revealed strong, haplotype-specific activation of the proto-oncogene MYC by the integrated HPV-18 genome approximately 500 kilobases upstream, and enabled global analyses of the relationship between gene dosage and expression. 

Cervical cancer / HPV graphic from Russell Kightley Media

Ed Rybicki‘s insight:

We have known for years that HeLa cells contain integrated HPV-18 genome(s) – now we know that they can be very probably causally linked to the cervical cancer that killed Ms Lacks, and led to her immortal cells becoming so much a part of modern molecular biology.

This is a tour de force in modern biology, and shows that, even 62 years later, new findings are coming out of old material.

Even if it is immortal – which poor Ms Lacks was not.

See on www.nature.com

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