Selection of recent publications

 

Professor Alan Lehmann

 

2023

Garcia-Moreno H, Langbehn DR, Abiona A, Garrood I, Fleszar Z, Manes MA, Morley AMS, Craythorne E, Mohammed S, Henshaw T, Turner S, Naik H, Bodi I, Sarkany RPE, Fassihi H, Lehmann AR, Giunti P (2023). Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression. Brain 146, 5044-5059,

2020

Lehmann AR, Fassihi H. (2020) Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum. DNA Repair. 93,102907

2018

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR (2018). Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J Med Genet 55, 329-343.

2017

Alt, A., Dang, H.Q., Wells, O.S., Polo, L.M., Smith, M.A., McGregor, G.A., Welte, T., Lehmann, A.R., Pearl, L.H., Murray, J.M., et al. (2017). Specialized interfaces of Smc5/6 control hinge stability and DNA association. Nat Commun 8, 14011.

2016

Fassihi, H., Sethi, M., Fawcett, H., Wing, J., Chandler, N., Mohammed, S., Craythorne, E., Morley, A.M., Lim, R., Turner, S., et al. (2016). Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S A 113, E1236-1245.

Sethi, M., Haque, S., Fawcett, H., Wing, J.F., Chandler, N., Mohammed, S., Frayling, I.M., Norris, P.G., McGibbon, D., Young, A.R., et al. (2016). A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan. J Invest Dermatol 136, 869-872.

van der Crabben, S.N., Hennus, M.P., McGregor, G.A., Ritter, D.I., Nagamani, S.C., Wells, O.S., Harakalova, M., Chinn, I.K., Alt, A., Vondrova, L., et al. (2016). Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest 126, 2881-2892.

2015

Guo, C., Nakazawa, Y., Woodbine, L., Bjorkman, A., Shimada, M., Fawcett, H., Jia, N., Ohyama, K., Li, T.S., Nagayama, Y., et al. (2015). XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. J Allergy Clin Immunol 136, 1007-1017.

2014

Baple, E.L., Chambers, H., Cross, H.E., Fawcett, H., Nakazawa, Y., Chioza, B.A., Harlalka, G.V., Mansour, S., Sreekantan-Nair, A., Patton, M.A., et al. (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest 124, 3137-3146.

2013

Ju, L., Wing, J., Taylor, E., Brandt, R., Slijepcevic, P., Horsch, M., Rathkolb, B., Racz, I., Becker, L., Hans, W., et al. (2013). SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities. DNA repair 12, 356-366.

Kashiyama, K., Nakazawa, Y., Pilz, D.T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J.F., Lewin, S.O., Carr, L., et al. (2013). Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia. Am J Hum Genet 92, 807-819.

Sethi, M., Lehmann, A.R., Fawcett, H., Stefanini, M., Jaspers, N., Mullard, K., Turner, S., Robson, A., McGibbon, D., Sarkany, R., et al. (2013). Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. The British journal of dermatology 169, 1279-1287.

2012

Lehmann, A.R. (2012). DNA repair, DNA replication and human disorders: A personal journey. DNA Repair 11, 328-334.

Nakazawa, Y., Sasaki, K., Mitsutake, N., Matsuse, M., Shimada, M., Nardo, T., Takahashi, Y., Ohyama, K., Ito, K., Mishima, H., et al. (2012). Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nature Genetics 44, 586-592.

Niimi, A., Chambers, A.L., Downs, J.A., and Lehmann, A.R. (2012). A role for chromatin remodellers in replication of damaged DNA. Nucleic Acids Research 40, 7393-7403.

Sale, J.E., Lehmann, A.R., and Woodgate, R. (2012). Y-family DNA polymerases and their role in tolerance of cellular DNA damage. Nature reviews Molecular cell biology 13, 141-152.

2011

Hudson, J.J.R., Bednarova, K., Kozakova, L., Liao, C., Guerineau, M., Colnaghi, R., Vidot, S., Marek, J., Bathula, S.R., Lehmann, A.R., et al. (2011). Interactions between the Nse3 and Nse4 Components of the SMC5-6 Complex Identify Evolutionarily Conserved Interactions between MAGE and EID Families. PLoS One 6.

Lehmann, A.R. (2011). DNA polymerases and repair synthesis in NER in human cells. DNA Repair 10, 730-733.

Lehmann, A.R. (2011). Ubiquitin-family modifications in the replication of DNA damage. FEBS letters 585, 2772-2779.

Sertic, S., Pizzi, S., Cloney, R., Lehmann, A.R., Marini, F., Plevani, P., and Muzi-Falconi, M. (2011). Human exonuclease 1 connects nucleotide excision repair (NER) processing with checkpoint activation in response to UV irradiation. Proceedings of the National Academy of Sciences of the United States of America 108, 13647-13652.

Goehler, T., Sabbioneda, S., C.M., G., and Lehmann, A. R. (2011). ATR-mediated phosphorylation of DNA polymerase ŋ is needed for efficient recovery from UV damage, J. Cell Biol. 192,  219-227.

2010

Bienko, M., Green, C. M., Sabbioneda, S., Crosetto, N., Matic, I., Hibbert, R. G., Begovic, T., Niimi, A., Mann, M., Lehmann, A. R., and Dikic, I. (2010). Regulation of Translesion Synthesis DNA Polymerase eta by Monoubiquitination. Mol Cell 37, 396-407.

Coulon, S., Ramasubramanyan, S., Alies, C., Philippin, G., Lehmann, A., and Fuchs, R. P. (2010). Rad8Rad5/Mms2-Ubc13 ubiquitin ligase complex controls translesion synthesis in fission yeast. EMBO J 29, 2048-2058.

Ogi, T., Limsirichaikul, S., Overmeer, R. M., Volker, M., Takenaka, K., Cloney, R., Nakazawa, Y., Niimi, A., Miki, Y., Japers, N. G., et al. (2010). Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthises in human cells. Molecular Cell 37, 714-727.

Ramasubramanyan, S., Coulon, S., Fuchs, R. P., Lehmann, A. R., and Green, C. M. (2010). Ubiquitin-PCNA fusion as a mimic for mono-ubiquitinated PCNA in Schizosaccharomyces pombe. DNA Repair (Amst) 9, 777-784.

2008

Kleijer, W. J., Laugel, V., Berneburg, M., Nardo, T., Fawcett, H., Gratchev, A., Jaspers, N. G., Sarasin, A., Stefanini, M., and Lehmann, A. R. (2008). Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 7, 744-750.

Niimi, A., Brown, S., Sabbioneda, S., Kannouche, P. L., Scott, A., Yasui, A., Green, C. M., and Lehmann, A. R. (2008). Regulation of proliferating cell nuclear antigen ubiquitination in mammalian cells. Proc Natl Acad Sci U S A 105, 16125-16130.

Sabbioneda, S., Gourdin, A. M., Green, C. M., Zotter, A., Giglia-Mari, G., Houtsmuller, A., Vermeulen, W., and Lehmann, A. R. (2008). Effect of proliferating cell nuclear antigen ubiquitination and chromatin structure on the dynamic properties of the Y-family DNA polymerases. Mol Biol Cell 19, 5193-5202.

Taylor, E. M., Copsey, A. C., Hudson, J. J., Vidot, S., and Lehmann, A. R. (2008). Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. Mol Cell Biol 28, 1197-1206.

2007

Lehmann, A. R., Niimi, A., Ogi, T., Brown, S., Sabbioneda, S., Wing, J. F., Kannouche, P. L., and Green, C. M. (2007). Translesion synthesis: Y-family polymerases and the polymerase switch. DNA Repair (Amst) 6, 891-899.

2006

Frampton, J., Irmisch, A., Green, C. M., Neiss, A., Trickey, M., Ulrich, H. D., Furuya, K., Watts, F. Z., Carr, A. M., and Lehmann, A. R. (2006). Postreplication repair and PCNA modification in Schizosaccharomyces pombe. Mol Biol Cell 17, 2976-2985.

Ogi, T., and Lehmann, A. R. (2006). The Y-family DNA polymerase kappa (pol kappa) functions in mammalian nucleotide-excision repair. Nat Cell Biol 8, 640-642.

Palecek, J., Vidot, S., Feng, M., Doherty, A. J., and Lehmann, A. R. (2006). The SMC5-6 DNA repair complex: Bridging of the SMC5-6 heads by the Kleisin, NSE4, and non-Kleisin subunits. J Biol Chem 281, 36952-36959.

2005

Andrews, E. A., Palecek, J., Sergeant, J., Taylor, E., Lehmann, A. R., and Watts, F. Z. (2005). Nse2, a component of the Smc5-6 complex, is a SUMO ligase required for the response to DNA damage. Mol Cell Biol 25, 185-196.

Bienko, M., Green, C. M., Crosetto, N., Rudolf, F., Zapart, G., Coull, B., Kannouche, P., Wider, G., Peter, M., Lehmann, A. R., et al. (2005). Ubiquitin-binding domains in translesion synthesis polymerases. Science 310, 1821-1824.

Friedberg, E. C., Lehmann, A. R., and Fuchs, R. P. (2005). Trading places: how do DNA polymerases switch during translesion DNA synthesis? Mol Cell 18, 499-505.

Fujimoto, M., Leech, S. N., Theron, T., Mori, M., Fawcett, H., Botta, E., Nozaki, Y., Yamagata, T., Moriwaki, S., Stefanini, M., et al. (2005). Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. J Invest Dermatol 125, 86-92.

Ogi, T., Kannouche, P., and Lehmann, A. R. (2005). Localization of human DNA polymerase kappa (polk), a Y-family DNA polymerase: relationship to PCNA foci. J Cell Sci 118, 129-136.

Sergeant, J., Taylor, E., Palecek, J., Fousteri, M., Andrews, E., Sweeney, S., Shinagawa, H., Watts, F. Z., and Lehmann, A. R. (2005). Composition and architecture of the Schizosaccharomyces pombe Rad18 (Smc5-6) complex. Mol Cell Biol 25, 172-184.

Theron, T., Fousteri, M. I., Volker, M., Harries, L. W., Botta, E., Stefanini, M., Fujimoto, M., Andressoo, J. O., Mitchell, J., Jaspers, N. G., et al. (2005). Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Mol Cell Biol 25, 8368-8378.

2004

Kannouche, P. L., Wing, J., and Lehmann, A. R. (2004). Interaction of Human DNA Polymerase eta with Monoubiquitinated PCNA; A Possible Mechanism for the Polymerase Switch in Response to DNA Damage. Mol Cell 14, 491-500.

2003

Kannouche, P., Fernandez de Henestrosa, A. R., Coull, B., Vidal, A. E., Gray, C., Zicha, D., Woodgate, R., and Lehmann, A. R. (2003). Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells. Embo J 22, 1223-1233.

2002

Broughton, B. C., Cordonnier, A., Kleijer, W. J., Jaspers, N. G., Fawcett, H., Raams, A., Garritsen, V. H., Stary, A., Avril, M. F., Boudsocq, F., et al. (2002). Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci U S A 99, 815-820.

2001

Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., et al. (2001). Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Human Molecular Genetics 10, 2539-2547.

Kannouche, P., Broughton, B. C., Volker, M., Hanaoka, F., Mullenders, L. H. F., and Lehmann, A. R. (2001). Domain structure, localization and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells. Genes Dev 15, 158-172.

Lehmann, A. R. (2001). The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 15, 15-23.

Taylor, E. M., Moghraby, J. S., Lees, J. H., Smit, B., Moens, P. B., and Lehmann, A. R. (2001). Characterisation of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. Mol Biol Cell 12, 1583-1594.

Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., et al. (2001). Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 10, 2797-2802.