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Broken break repair

Credit: James King-Holmes / Photo Researchers, Inc" /> Credit: James King-Holmes / Photo Researchers, Inc The paper: P. Ahnesorg et al., "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining," Cell, 124:301-13, 2006. (Cited in 76 papers) The finding: When Stephen Jackson at Cambridge University read a 2003 PNAS paper describing a patient's defective DNA repair that didn't involve any known repair proteins, he

kerry grens
Kerry Grens

Kerry served as The Scientist’s news director until 2021. Before joining The Scientist in 2013, she was a stringer for Reuters Health, the senior health and science reporter at...

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<figcaption> Credit: James King-Holmes / Photo Researchers, Inc</figcaption>
Credit: James King-Holmes / Photo Researchers, Inc

The paper:
P. Ahnesorg et al., "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining," Cell, 124:301-13, 2006. (Cited in 76 papers)

The finding:
When Stephen Jackson at Cambridge University read a 2003 PNAS paper describing a patient's defective DNA repair that didn't involve any known repair proteins, he wondered what was going on. "So we said, let's go fishing," says Jackson. They pulled out a new protein, similar in sequence to the DNA repair protein XRCC4. Jackson's team found that the gene's mutation in a cell line derived from the patient was contributing to the cells' radiosensitivity, often linked to problematic DNA repair.

The structure:
Jackson, a member of The Scientist's editorial board, named the protein XRCC4-like factor (XLF). Last year he and his colleagues published the crystal structure of XLF, which "shows it is indeed XRCC4-like...

Characteristics of XLF/Cernunnos mutations:

Clinical: Immunodeficiency, sometimes microcephaly
Cellular: Radiosensitivity
Molecular: Impaired nonhomologous end-joining

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