Ku Recruitment for the Repair of Double Stranded DNA Breaks

Tobias McCabe '21, Amna Tahir '21, and Jessica Meza '21


Contents:


I. Introduction

Molecule:

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When there is a double stranded break in the DNA (DSB), it is repaired through the non-homologous end joining (NHEJ) pathway. This pathway requires many complexes such as Ku, XRCC4 and DNA ligase IV to mediate the repair process. Although the DSB repair through the NHEJ pathway does not use a template to rejoin the separated ends of DNA, NHEJ is a highly accurate mechanism of repair. Ku is responsible for coordinating the accurate alignment and stabilizing of disjointed DNA strands. Proteins including XLF and APLF interact with Ku through a series of residues that make up Ku Binding Motifs (KBM) in order to commence repair. When X-KBM and A-KBM are bound to DNA, they can stabilize and rotate Ku80 interactions with the DNA so that repair may begin.

II. General Structure

The Ku is made of two subunits 70K and 80K. is located nearer to the N-terminus and is near the C-terminus. There is a Ku heterodimer located on each side of a DSB;Ku70 is about 7 angstroms closer to the broken portion of DNA than Ku80 because Ku80 is largely responsible for the binding of outside factors of the NHEJ pathway. APLF and XLF (and other factors) each have their own KBM but compete for the hydrophobic pocket of Ku80.

III. DNA Binding

Ku forms a ring like structure formed by both dimers called the . That non-sequence specific ring binds to . The DNA binding domain has six Rossmann fold B sheets and is 70 angstroms long. Although Ku binds to DNA through interactions with the sugar phosphate backbone, also interacts with the minor groove. DNA is held securely in place due to a combination of positive electrostatic charges along the inside of the ring. About two turns of DNA, or 20 base pairs, can fit inside of the DNA binding domain ring. Because the ring binding domain allows about 70% of the DNA to be exposed, repair factors are available to access the DNA. The groove is located near to the N-terminus while the C-terminus is important in the binding of the NHEJ factors.

IV. APLF interactions with Ku

interacts with a of the Ku80 subunit. The KBM of APLF is highly conserved; in humans the sequence is 5' - AERKRILPTWMLA - 3' and varies slightly in other mammals. APLF binds at the edge of the which is 50 angstroms away from Ku80-DNA binding site. When interacting with vWA, the hydrophobic APLF adopts a hairpin conformation and sits in the pocket of Ku created by helices a4 and a5 and the beta strands B and C. Residues 5'- Leu68, Tyr74, and Ile112 - 3' are responsible for the tight between the Ku pocket and A-KBM . The basic residues in APLF's N-terminus (Glu181, Arg182, Lys183) and an acidic residue (Arg184) form through hydrogen bonds with Ku's Asp106, Asp109, Gln73, Ser145, Lys144, and Ser143.

V. XLF Interactions with Ku

When the Ku-hDNA complex is bound to XLF peptides via , there is a large outward rotation of the Ku80 and the remainder of the Ku heterodimer. This formation of the large groove is known as the "open" state of Ku. This conformational change doesn't affect the way Ku interacts with double-stranded DNA. X-KBM binds near the Ku80 vWA face of this groove in the pocket that is indicated by the position of four (BA, BD, BE, and BE') and three (a2, a7', a7"). X-KBM binds closer to the DNA than the APLF but it isn't in direct contact. In the , the residues PHE41, LEU234, VAL37, LEU12,PHE135, PHE164, and PHE225 are buried and mediate intermolecular contact. They occupy a hydrophobic pocket which stabilizes the open state of Ku80. The vWA opening also has a secondary structure that separates the vWA from the rest of the Ku heterodimer; it is found within the (R232-E241). In the absence of DNA, or with short DNA that is protected by the Ku ring, XLF and X-KBM will interact similarly with Ku because their binding affinities to Ku are very similar. There is also a 50 base pair interaction between XLF and Ku.

Figure 1. from (1) Nemoz et al. The structural components of Ku and other factors.


VI. Important Residues

is seen as a potential "spring" to help with the Ku80 opening based on its position in the closed state of Ku80. It's pKa is 9.1 (typically in solvent, Glu is 4.5) which provides energy from the solvation of the Glu E133 for Ku80 to open once the Ku80 residues, V236, F237, and I240, are displaced away from the E13380 carboxyl moiety. A patch of the N terminus, followed by a hydrophobic patch, share similar sequences between A-KBM and X-KBM. A-KBM affinity relies on while X-KBM affinity relies on

X-KBM with an L297W substitution had an interaction 40-fold tighter than a WT X-KBM whereras the L297E mutation had no interaction with Ku. However, when saturated with A-KBM, X-KBM L297W had no interaction with Ku, which suggests that the mutation redirected X-KBM to the A-KBM binding site on Ku80. The X-KBM fragment gets redirected to the APLF-binding site by the L297W mutation. APLF-specific interaction with Ku80 is determined by the W189 residue. WT X-KBM bound to the Ku-DNA complex was bound stronger than with both the L297W and L297E mutations. This shows that the L297W mutation cannot redirect the XLF protein to the A-KBM binding site, even if X-KBM is redirected by the mutation, leading to impaired recruitment of XLF.


VII. References

1. Nemoz, C.; Ropars, V.; Frit, P.; Gontier, A.; Drevet, P.; Yu, J.; Guerois, R.; Pitois, A.; Comte, A.; Delteil, C.; Barboule, N.; Legrand, P.; Baconnais, S.; Yin, Y.; Tadi, S.; Barbet-Massin, E.; Berger, I.; Le Cam, E.; Modesti, M.; Rothenberg, E.; Calsou, P.; Charbonnier, J. B. XLF and APLF bind Ku80 at two remote sites to ensure DNA repair by non-homologous end joining. Nature Structural & Molecular Biology 2018, 25, 971-980.

2. Walker, J. R.; Corpina, R. A.; Goldberg, J. Structure of the Ku heterodimer bound to DNA and its implications for double-strand break repair. Nature 2001, 412, 607.

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