Jacques Beckmann

Research Summary

His main research interests go from the elucidation of the genetic etiology of monogenic inherited traits, to that of complex traits in humans or experimental model systems, with a particular emphasis on pharmacogenetics. As experimental systems, we are currently exploring both mice genetics as well as the analyses of established cell lines from large multi-generations families.

Representative publications

 
Richard, I., O. Broux, V. Allamand, F. Fougerousse, N. Chiannilkuchaï, N. Bourg, L. Brenguier, C. Devaud, P. Pasturaud, C. Roudaut, D. Hillaire, M.-R. Passos-Bueno, M. Zatz, J.A. Tischfield, M. Fardeau, C.E. Jackson, D. Cohen and J.S. Beckmann (1995). A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 81: 27-40.

Richard, I and J.S. Beckmann (1995). How neutral are synonymous codon mutations. Nature Genetics 10: 259.
 

Lim, L.E., F. Duclos, O. Broux, N. Bourg, Y. Sunada, V. Allamand, J. Meyer, I. Richard, C. Moomaw, C. Slaughter, F.M.S. Tomé, M. Fardeau, C.E. Jackson, J.S. Beckmann and K.P. Campbell (1995). ß-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genetics 11: 257-265.
 

Schuler, G.D., M.S. Boguski, E.A. Stewart, L.D. Stein, G. Gyapay, K. Rice, R.E. White, P. Rodriguez-Tome, A. Aggarwal, E. Bajorek, S. Bentolila, B.B. Birren, A. Butler, A.B. Castle, N. Chiannilkulchai, A. Chu, C. Clee, S. Cowles, P.J.R. Day, T. Dibling, N. Drouot, I. Dunham, S. Duprat, C. East, C. Edwards, J.-B. Fan, N. Fang, C. Fizames, C. Garrett, L. Green, D. Hadley, M. Harris, P. Harrison, S. Hebert, A. Hicks, E. Holloway, L. Hui, S. Hussain, C. Louis-Dit-Sully, J. Ma, A. MacGilvery, C. Mader, A. Maratukulum, T.C. Matise, K.B. McKusick, J. Morissette, A. Mungall, D. Muselet, H.C. Nusbaum, D.C. Page, A. Peck, S. Perkins, M. Piercy, F. Qin, J. Quackenbush, S. Ranby, T. Reif, S. Rozen, C. Sanders, X. She, J. Silva, D.K. Slonim, C. Soderlund, W.-L. Sun, P. Tabar, T. Thangarajah, N. Vega-Czarny, D. Vollrath, S. Voyticky, T. Wilmer, X. Wu, M.D. Adams, C. Auffray, R. Berry, R. Brandon, A. Dehejia, P.N. Goodfellow, R. Houlgatte, J.R. Hudson Jr, S.E. Ide, K.R. Iorio, K. Ishikawa, W.Y. Lee, T. Nagase, N. Nomura, C. Phillips, M.H. Polymeropoulos, M. Sandusky , K. Schmitt, N. Seki, J.M. Sikela, K. Swanson, R. Torres, J.C. Venter, N.A.R. Walter, J. S. Beckmann, J. Weissenbach, R.M. Myers, D.R. Cox, M.R. James, D. Bentley, P. Deloukas, E.S. Lander and T.J. Hudson (1996). A Gene Map of the Human Genome. Science 274: 540-546.
 

Richard I., L. Brenguier, P. Dinçer, C. Roudaut, B. Bady, J.-M. Burgunder, R. Chemaly, C.A. Garcia, G. Halaby, C.E. Jackson, D.M. Kurnit, G. Lefranc, C. Legum, J. Loiselet, L. Merlini, A. Nivelon-Chevallier, E. Ollagnon-Roman, G. Restagno, H. Topaloglu and J.S. Beckmann (1997). Multiple Independent Molecular Etiology for Limb Girdle Muscular Dystrophy Type 2A Patients from Various Geographical Origins. Am. J. Hum. Genet. 60: 1128-1138.
 

Varfolomeev E. E., M. Schuchmann, V. Luria, N. Chiannilkulchai, J.S. Beckmann, I.L. Mett, D. Rebrikov, V.M. Brodianski, O.C. Kemper, O. Kollet, T. Lapidot, D. Soffer, T. Sobe, K.B. Avraham, T. Goncharov, H. Holtmann, P. Lonai, and D. Wallach (1998). Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally. Immunity 9 (2): 267-276.
 

Deloukas P., G.D. Schuler, G. Gyapay, E.M. Beasley, C. Soderlund, P. Rodriguez-Tome, L. Hui, T.C. Matise, K.B. McKusick, J.S. Beckmann, S. Bentolila, M.-T. Bihoreau, B.B. Birren, J. Browne, A. Butler, A.B.Castle, N. Chiannilkulchai, C. Clee, P. J.R. Day, A. Dehejia, T. Dibling, N. Drouot, S. Duprat, C. Fizames, S. Fox, S. Gelling, L. Green, P. Harison, R. Hocking, E. Holloway, S. Hunt, S. Keil, P. Lijnzaad, C. Louis-Dit-Sully, J. Ma, A. Mendis, J. Miller, J. Morissette, D. Muselet, H.C. Nusbaum, A. Peck, S. Rozen, D. Simon, D.K. Slonim, R.Staples, L.D. Stein, E. A. Stewart, M.A. Suchard, T. Thangarajah, N. Vega-Czarny, C. Webber, X. Wu, C. Auffray, N. Nomura, J. M. Sikela, M.H. Polymeropoulos, M.R. James, E.S. Lander, T.J. Hudson, R.M. Myers, D.R. Cox, J. Weissenbach, M.S. Boguski, D.R. Bentley (1998). A physical map of 30,000 human genes. Science 282: 744-746. 
 

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira E de S, Zatz M, Beckmann JS, Bushby K  (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20(1): 37-42
 

Baghdiguian S., M Martin, I Richard, F Pons, C Astier, N Bourg, R T Hay, R Chemaly, G Halaby, J Loiselet, L V B Anderson, A L D Munain, M Fardeau, P Mangeat, J S Beckmann and G Lefranc (1999). Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IB/NF-B pathway in limb-girdle muscular dystrophy type 2A. Nature Medecine 5 (5): 503-511.
 

Prilusky J, Felder CE, Zeev-Ben-Mordehai T, Rydberg E, Man O, Beckmann JS, Silman I, Sussman JL. (2005). FoldIndex(C): a simple tool to predict whether a given protein sequence is intrinsically unfolded. Bioinformatics 21(16): 3435-8.
 

Antonarakis SE and Beckmann JS. Mendelian Disorders deserve more attention (2006). Nature Rev Genet. 7(4): 277-82.
 

Beckmann JS, Estivill X, Antonarakis SE. (2007). Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 8(8): 639-46.
 

Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses' Health Study, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Lyon HN, Voight BF, Ridderstrale M, Groop L, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; The SardiNIA Study, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Ganz Vogel CI, Wallace C, Waterworth DM, Weedon MN; The Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Jackson AU, Tuomilehto J, Collins FS, Boehnke M, Mohlke KL, Wraight VL, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I. (2008). Association studies involving over 90,000 samples demonstrate that common variants near to MC4R influence fat mass, weight and risk of obesity. Nat Genetics 40(6): 768-75.
 

Beckmann JS, Spencer M. (2008). Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 18(12): 913-21.
 

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 463(7281): 671-5.
 
 

Complete list of publications