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David Brook

Professor of Human Genetics, Faculty of Medicine & Health Sciences

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Biography

University of Manchester BSc 1979, University of Edinburgh PhD 1983, University of Wales College of Medicine Post-Doc 1982 - 1989, Massachusetts Institute of Technology Post-Doc 1989 - 1992, 糖心原创 Senior Lecturer 1992 - 1995, Professor 1995 - present, Head of the Institute of Genetics 2000 - 2003, Head of the School of Biology 2003 - 2008.

Teaching Summary

Human Molecular Genetics

Research Summary

Molecular genetic studies to identify genes involved in cardiac development: Holt-Oram syndrome (HOS) is an inherited disorder that affects the development of the heart and upper limb. Whilst HOS is… read more

Selected Publications

  • GRANADOS-RIVERON, J.T., GHOSH, T,K., POPE, M., BU'LOCK, F., THORNBOROUGH, C., EASON, J., KIRK, E.P., FATKIN, D., FENELEY, M.P., HARVEY, R.P., ARMOUR, J.A.L. and BROOK, J.D., 2010. Human Molecular Genetics. 19(20), 4007-4016
  • GHOSH, T.K., SONG, F.F., PACKHAM, E.A., BUXTON, S., ROBINSON, T.E., RONKSLEY, J., SELF, T., BONSER, A.J. and BROOK, J.D., 2009. Molecular and Cellular Biology. 29(8), 2205-2218
  • MATSSON, H, EASON, J, BOOKWALTER, C S, KLAR, J, GUSTAVSSON, P, SUNNEG脜RDH, J, ENELL, H, JONZON, A, VIKKULA, M, GUTIERREZ, I, GRANADOS-RIVERON, J, POPE M, BU鈥橪OCK F, COX J: ROBINSON T E, SONG F, BROOK J D, MARSTON S and TRYBUS K M AND DAHL N, 2008. Human Molecular Genetics. 17(2), 256-65
  • HOLT, I., JACQUEMIN, V., FARDAEI, M., SEWRY, C.A., BUTLER-BROWNE, G.S., FURLING, D., BROOK, J.D. and MORRIS, G.E., 2009. The American Journal of Pathology. 174(1), 216-227

Current Research

Molecular genetic studies to identify genes involved in cardiac development: Holt-Oram syndrome (HOS) is an inherited disorder that affects the development of the heart and upper limb. Whilst HOS is relatively rare, affecting 1 in 50,000, a better understanding of this condition will provide insights to the more common abnormalities of heart development such as atrial septal defects and ventricular septal defects commonly referred to as hole-in-the-heart, which can affect 1 in 500 newborns. We have identified a gene, TBX5, which when mutated causes Holt-Oram syndrome. We are studying the molecular genetics of TBX5 to identify upstream and downstream genes, and proteins with which it interacts to elucidate its role in cardiac development. We are also studying a series of other families with dominantly inherited atrial septal defects to identify the genetic basis of this condition. In collaboration with colleagues at Leicester Glenfield Hospital, the main pediatric cardiology centre in the region, we are collecting blood samples for DNA analysis from patients with sporadic congenital heart disorders and their relatives. The objective of this work is to determine the genetic contribution to sporadic congenital heart disease.

Downstream Targets of TBX5

To identify downstream targets of Tbx5 we have set up an experimental system using the embryonal carcinoma cell line P19CL6 as a tissue culture model of cardiac differentiation. P19CL6 cells can be differentiated efficiently in culture to form beating cardiomyocytes. The aim of these experiments is to establish a system in which the expression of Tbx5 and other transcription factors can be manipulated in a cell based assay and the downstream effects, in terms of impact on gene expression, monitored using microarrays. This system also provides an additional readout of the cells' phenotype, i.e. their ability to beat.

In order to promote differentiation to form beating cardiomyocytes P19CL6 cells are exposed to DMSO. At day 0 of differentiation ~200-500 cells in 20 m l drops of tissue culture medium containing 0.5% DMSO are pipetted onto a Petri Dish lid and inverted over 20 ml of PBS. 48 hrs later (Day 2), the cells in the hanging drops will have come together to form embryoid bodies (EBs), which are rinsed and placed into fresh medium containing 0.5% DMSO in a non-tissue culture treated Petri dish so that the EBs remain in suspension. On day 5, the EBs are transferred to a tissue culture grade dish containing a MEM and between days 7 to 10 the EBs begin to beat. The proportion of beating cells in each embryoid body varies but a representative set of images is shown below (Arrows highlight regions of beating cells).

References

Li, Q-Y. et al. (1997) Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genetics 15, 21-29.

Cross, S.J., Ching, Y-H., Li, Q-L., Armstrong-Buisseret, L., Spranger, S., Munnich, A., Bonnet, D., Pentinnen, M., Jonveaux, P., Mortier, G., van Ravenswaaij, C., Brook, J.D. and Newbury-Ecob, R. (2000) The mutation spectrum in Holt-Oram syndrome. Journal of Medical Genetics 37, 785-787.

Ghosh, T.K., Packham, E.A., Bonser, A.J., Robinson, T.E., Cross, S.J. and Brook, J.D. (2001) Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Human Molecular Genetics 19(18), 1983-1994.

Ching, Y.H., Ghosh, T.K., Cross, S.J., Packham, E.A., Honeyman, L., Loughna, S., Robinson, T.E., Dearlove, A.M., Ribas, G., Bonser, A.J., Thomas, N.R., Scotter, A.J., Caves, L.S., Tyrrell, G.P., Newbury-Ecob, R.A., Munnich, A., Bonnet, D. and Brook, J.D. (2005) Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet, 37, 423-428.

Understanding the molecular basis of myotonic dystrophy

Myotonic dystrophy (DM) is the most common form of muscular dystrophy affecting adults. DM is caused by the expansion of a repeated DNA sequence, CTG, which is located in the 3? untranslated region of a gene DMPK. It is not known how the expansion of this repeat causes the pathophysiology of DM. There are two main theories. One possibility is that expansion of the repeat affects the expression of DMPK and neighbouring genes. The other possibility is that the DMPK RNA with an expanded repeat interacts with cellular proteins to produce a gain-of-function mutation. We are actively investigating both possible mechanisms.

References

Hamshere, M.G., Newman, E.E., Alwazzan, M., Athwal, B. and Brook, J.D. (1997) Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighbouring genes. Proc. Natl. Acad. Sci. USA 94, 7394-7399.

Alwazzan, M., Hamshere, M.G., Lennon, G.G. and Brook, J.D. (1998) Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. Mammalian Genome 9, 485-487.

Alwazzan, M., Newman, E., Hamshere, M.G. and Brook, J.D. (1999) Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Human Molecular Genetics 8, 1491-1497.

Fardaei, M., Larkin, K., Brook, J.D. and Hamshere, M.G. (2001) In vivo co-localisation of MBNL, protein with DMPK expanded-repeat transcripts. Nucleic Acids Research 29, 2766-2771.

Fardaei, M., Rogers, M.T., Thorpe, H.M., Larkin, K., Hamshere, M.G., Harper, P.S. and Brook

Future Research

Holt-Oram syndrome (HOS) is an inherited disorder that affects the development of the heart and upper limb. Whilst HOS is relatively rare, affecting 1 in 50,000, a better understanding of this condition will provide insights to the more common abnormalities of heart development such as atrial septal defects and ventricular septal defects commonly referred to as hole-in-the-heart, which can affect 1 in 500 newborns. We have identified a gene, TBX5, which when mutated causes Holt-Oram syndrome. We are studying the molecular genetics of TBX5 to identify upstream and downstream genes, and proteins with which it interacts to illucidate its role in cardiac development. We are also studying a series of other families with dominantly inherited atrial septal defects to identify the genetic basis of this condition.

  • GHOSH TK, BROOK JD and WILSDON A, 2017. Current topics in developmental biology. 122, 383-415
  • SEDEHIZADEH S, BROOK JD and MADDISON P, 2017. Neuromuscular disorders : NMD. 27(3), 286-289
  • ENGLAND J, GRANADOS-RIVERON J, POLO-PARADA L, KURIAKOSE D, MOORE C, BROOK JD, RUTLAND CS, SETCHFIELD K, GELL C, GHOSH TK, BU'LOCK F, THORNBOROUGH C, EHLER E and LOUGHNA S, 2017. Journal of molecular and cellular cardiology. 106, 1-13
  • WILSDON, ANNA, SIFRIM, ALEJANDRO, HITZ, MARC-PHILLIP, HURLES, MATTHEW and BROOK, J DAVID, 2017. Recent advances in congenital heart disease genomics. F1000Research. 6, 869
  • HAYES CJ, BROOK JD and KETLEY A, 2017. Inhibitors and their uses WO 2017/163076 09/28/2017 00:00:00
  • SIFRIM A, HITZ MP, WILSDON A, BRECKPOT J, TURKI SH, THIENPONT B, MCRAE J, FITZGERALD TW, SINGH T, SWAMINATHAN GJ, PRIGMORE E, RAJAN D, ABDUL-KHALIQ H, BANKA S, BAUER UM, BENTHAM J, BERGER F, BHATTACHARYA S, BU'LOCK F, CANHAM N, COLGIU IG, COSGROVE C, COX H, DAEHNERT I, DALY A, DANESH J, FRYER A, GEWILLIG M, HOBSON E, HOFF K, HOMFRAY T, , KAHLERT AK, KETLEY A, KRAMER HH, LACHLAN K, LAMPE AK, LOUW JJ, MANICKARA AK, MANASE D, MCCARTHY KP, METCALFE K, MOORE C, NEWBURY-ECOB R, OMER SO, OUWEHAND WH, PARK SM, PARKER MJ, PICKARDT T, POLLARD MO, ROBERT L, ROBERTS DJ, SAMBROOK J, SETCHFIELD K, STILLER B, THORNBOROUGH C, TOKA O, WATKINS H, WILLIAMS D, WRIGHT M, MITAL S, DAUBENEY PE, KEAVNEY B, GOODSHIP J, , ABU-SULAIMAN RM, KLAASSEN S, WRIGHT CF, FIRTH HV, BARRETT JC, DEVRIENDT K, FITZPATRICK DR, BROOK JD, and HURLES ME, 2016. Nature genetics. 48(9), 1060-5
  • SEDEHIZADEH, SAAM, BROOK, J. DAVID and MADDISON, PAUL, 2016. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 87(12),
  • HANCHARD, NEIL A., SWAMINATHAN, SHANKER, BUCASAS, KRISTINE, FURTHNER, DIETER, FERNBACH, SUSAN, AZAMIAN, MAHSHID S., WANG, XUEQING, LEWIN, MARK, TOWBIN, JEFFREY A., D'ALESSANDRO, LISA C. A., MORRIS, SHAINE A., DREYER, WILLIAM, DENFIELD, SUSAN, AYRES, NANCY A., FRANKLIN, WAYNE J., JUSTINO, HENRI, LANTIN-HERMOSO, M. REGINA, OCAMPO, ELENA C., SANTOS, ALEXIA B., PAREKH, DHAVAL, MOODIE, DOUGLAS, JEEWA, AAMIR, LAWRENCE, EMILY, ALLEN, HUGH D., PENNY, DANIEL J., FRASER, CHARLES D., LUPSKI, JAMES R., POPOOLA, MOJISOLA, WADHWA, LALITA, BROOK, J. DAVID, BU'LOCK, FRANCES A., BHATTACHARYA, SHOUMO, LALANI, SEEMA R., ZENDER, GLORIA A., FITZGERALD-BUTT, SARA M., BOWMAN, JESSICA, CORSMEIER, DON, WHITE, PETER, LECERF, KELSEY, ZAPATA, GLADYS, HERNANDEZ, PATRICIA, GOODSHIP, JUDITH A., GARG, VIDU, KEAVNEY, BERNARD D., LEAL, SUZANNE M., CORDELL, HEATHER J., BELMONT, JOHN W. and MCBRIDE, KIM L., 2016. HUMAN MOLECULAR GENETICS. 25(11), 2331-2341
  • KETLEY A, CHEN CZ, LI X, ARYA S, ROBINSON TE, GRANADOS-RIVERON J, UDOSEN I, MORRIS GE, HOLT I, FURLING D, CHAOUCH S, HAWORTH B, SOUTHALL N, SHINN P, ZHENG W, AUSTIN CP, HAYES CJ and BROOK JD, 2014. Human molecular genetics. 23(6), 1551-62
  • AL TURKI S, MANICKARAJ AK, MERCER CL, GERETY SS, HITZ M, LINDSAY S, D'ALESSANDRO LCA, SWAMINATHAN GJ, BENTHAM J, ARNDT A, LOW J, BRECKPOT J, GEWILLIG M, THIENPONT B, ABDUL-KHALIQ H, HARNACK C, HOFF K, KRAMER H, SCHUBERT S, SIEBERT R, TOKA O, COSGROVE C, WATKINS H, LUCASSEN AM, O'KELLY IM, SALMON AP, BU'LOCK FA, GRANADOS-RIVERON J, SETCHFIELD K, THORNBOROUGH C, BROOK JD, MULDER B, KLAASSEN S, BHATTACHARYA S, DEVRIENDT K, FITZPATRICK DF, UK10K聽CONSORTIUM, WILSON DI, MITAL S and HURLES ME, 2014. American journal of human genetics. 94(4), 574-85
  • CORDELL HJ, T脰PF A, MAMASOULA C, POSTMA AV, BENTHAM J, ZELENIKA D, HEATH S, BLUE G, COSGROVE C, GRANADOS RIVERON J, DARLAY R, SOEMEDI R, WILSON IJ, AYERS KL, RAHMAN TJ, HALL D, MULDER BJM, ZWINDERMAN AH, VAN ENGELEN K, BROOK JD, SETCHFIELD K, BU'LOCK FA, THORNBOROUGH C, O'SULLIVAN J, STUART AG, PARSONS J, BHATTACHARYA S, WINLAW D, MITAL S, GEWILLIG M, BRECKPOT J, DEVRIENDT K, MOORMAN AFM, RAUCH A, LATHROP GM, KEAVNEY BD and GOODSHIP JA, 2013. Human molecular genetics. 22(7), 1473-81
  • KETLEY A, WARREN A, HOLMES E, GERING M, ABOOBAKER AA and BROOK JD, 2013. PloS one. 8(6), e65170
  • CORDELL, H.J., BENTHAM, J., TOPF, A., ZELENIKA, D., HEATH, S., MAMASOULA, C., COSGROVE, C., BLUE, G., GRANADOS-RIVERON, J., SETCHFIELD, K., THORNBOROUGH, C., BRECKPOT, J., SOEMEDI, R., MARTIN, R., RAHMAN, T.J., HALL, D., VAN ENGELEN, K., MOORMAN, A.F.M., ZWINDERMAN, A.H., BARNETT, P., KOOPMANN, T.T., ADRIAENS, M.E, VARRO, A., GEORGE, A.L., DOS REMEDIOS, C., BISHOPRIC, N.H., BEZZINA, C.R., O'SULLIVAN, J., GEWILLIG, M., BU'LOCK, F.A., WINLAW, D., BHATTACHARYA, S., DEVRIENDT, K., BROOK, J.D., MULDER, B.J.M., MITAL, S., POSTMA, A.V., LATHROP, G.M., FARRALL, M., GOODSHIP, J.A. and KEAVNEY, B.D., 2013. Nature Genetics. 45(7), 822-824
  • MAMASOULA C, PRENTICE RR, PIERSCIONEK T, PANGILINAN F, MILLS JL, DRUSCHEL C, PASS K, RUSSELL MW, HALL D, T脰PF A, BROWN DL, ZELENIKA D, BENTHAM J, COSGROVE C, BHATTACHARYA S, RIVERON JG, SETCHFIELD K, BROOK JD, BU'LOCK FA, THORNBOROUGH C, RAHMAN TJ, DOZA JP, TAN HL, O'SULLIVAN J, STUART AG, BLUE G, WINLAW D, POSTMA AV, MULDER BJM, ZWINDERMAN AH, VAN ENGELEN K, MOORMAN AFM, RAUCH A, GEWILLIG M, BRECKPOT J, DEVRIENDT K, LATHROP GM, FARRALL M, GOODSHIP JA, CORDELL HJ, BRODY LC and KEAVNEY BD, 2013. Circulation. Cardiovascular genetics. 6(4), 347-53
  • PALOMINO DOZA J, TOPF A, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK JD, GRANADOS-RIVERON J, BU'LOCK FA, O'SULLIVAN J, STUART AG, PARSONS J, RELTON C, GOODSHIP J, HENDERSON DJ and KEAVNEY B, 2013. BMC genetics. 14, 57
  • SOEMEDI R, TOPF A, WILSON IJ, DARLAY R, RAHMAN T, GLEN E, HALL D, HUANG N, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK JD, GRANADOS-RIVERON J, SETCHFIELD K, BU'LOCK F, THORNBOROUGH C, DEVRIENDT K, BRECKPOT J, HOFBECK M, LATHROP M, RAUCH A, BLUE GM, WINLAW DS, HURLES M, SANTIBANEZ-KOREF M, CORDELL HJ, GOODSHIP JA and KEAVNEY BD, 2012. Human Molecular Genetics. 21(7), 1513-1520
  • SOEMEDI R, WILSON IJ, BENTHAM J, DARLAY R, T脰PF A, ZELENIKA D, COSGROVE C, SETCHFIELD K, THORNBOROUGH C, GRANADOS-RIVERON J, BLUE GM, BRECKPOT J, HELLENS S, ZWOLINKSKI S, GLEN E, MAMASOULA C, RAHMAN TJ, HALL D, RAUCH A, DEVRIENDT K, GEWILLIG M, O' SULLIVAN J, WINLAW DS, BU'LOCK F, BROOK JD, BHATTACHARYA S, LATHROP M, SANTIBANEZ-KOREF M, CORDELL HJ, GOODSHIP JA and KEAVNEY BD, 2012. American journal of human genetics. 91(3), 489-501
  • GRANADOS-RIVERON JT and BROOK JD, 2012. Biochemistry research international. 2012, 504906
  • GRANADOS-RIVERON JT and BROOK JD, 2012. Circulation. Cardiovascular genetics. 5(1), 132-42
  • MACHUCA-TZILI, L.E., BUXTON, S., THORPE, A., TIMSON, C.M., WIGMORE, P., LUTHER, P.K. and BROOK, J.D., 2011. Disease Models & Mechanisms. 4(3), 381-392
  • PAUL, S., DANSITHONG, W., JOG, S.P., HOLT, I., MITTAL, S., BROOK, J.D., MORRIS, G.E., COMAI, L. and REDDY, S., 2011. Journal of Biological Chemistry. 286(44), 38427-38438
  • GRANADOS-RIVERON, J.T., GHOSH, T,K., POPE, M., BU'LOCK, F., THORNBOROUGH, C., EASON, J., KIRK, E.P., FATKIN, D., FENELEY, M.P., HARVEY, R.P., ARMOUR, J.A.L. and BROOK, J.D., 2010. Human Molecular Genetics. 19(20), 4007-4016
  • GHOSH, T.K., SONG, F.F., PACKHAM, E.A., BUXTON, S., ROBINSON, T.E., RONKSLEY, J., SELF, T., BONSER, A.J. and BROOK, J.D., 2009. Molecular and Cellular Biology. 29(8), 2205-2218
  • GRIFFIN, H R, HALL, D H, TOPF, A, EDEN, J, STUART, A G, PARSONS, J, PEART, I, DEANFIELD, J E, O'SULLIVAN, J, BABU-NARAYAN, S V, GATZOULIS, M A, BU'LOCK, F, BHATTACHARYA, S, BENTHAM, J, FARRALL, M, GRANADOS RIVERON, J, BROOK, J. D, BURN, J, CORDELL, H. J and GOODSHIP, J. A AND KEAVNEY, B., 2009. PloS One. 4(3), e4978
  • HOLT, I., JACQUEMIN, V., FARDAEI, M., SEWRY, C.A., BUTLER-BROWNE, G.S., FURLING, D., BROOK, J.D. and MORRIS, G.E., 2009. The American Journal of Pathology. 174(1), 216-227
  • RUTLAND, C., WARNER, L., THORPE, A., ALIBHAI, A., ROBINSON, T., SHAW, B., LAYFIELD, R., BROOK, J.D. and LOUGHNA, S., 2009. Journal of Anatomy. 214(6), 905-915
  • MATSSON, H, EASON, J, BOOKWALTER, C S, KLAR, J, GUSTAVSSON, P, SUNNEG脜RDH, J, ENELL, H, JONZON, A, VIKKULA, M, GUTIERREZ, I, GRANADOS-RIVERON, J, POPE M, BU鈥橪OCK F, COX J: ROBINSON T E, SONG F, BROOK J D, MARSTON S and TRYBUS K M AND DAHL N, 2008. Human Molecular Genetics. 17(2), 256-65
  • HOLT, I, MITTAL, S, FURLING, D, BUTLER-BROWN, G.S and BROOK, J.D. AND MORRIS, G.E., 2007. Genes to Cells. 12(9), 1035-1048
  • MACHUCA-TZILI, L., THORPE, H., ROBINSON, T.E., SEWRY, S. and BROOK, J.D., 2006. Human Genetics. 120(4), 487-499
  • CHING, Y.-H., GHOSH, T.K., CROSS, S.J., PACKHAM, E.A., HONEYMAN, L., LOUGHNA, S., ROBINSON, T.E., DEARLOVE, A.M., RIBAS, G., BONSER, A.J., THOMAS, N.R., SCOTTER, A.J., CAVES, L.S.D., TYRRELL, G.P., NEWBURY-ECOB, R.A., MUNNICH, A., BONNET, D. and BROOK, J.D., 2005. Nature Genetics. 37(4), 423-428
  • MACHUCA-TZILI, L., BROOK, D. and HILTON-JONES, D., 2005. Muscle and Nerve. 32(1), 1-18
  • PACKHAM, E.A. and BROOK, J.D., 2003. Human Molecular Genetics. 12(SPI/1), R37-R44
  • PACKHAM, ELIZABETH A and DAVID BROOK, J, 2003. Interaction makes the heart grow stronger. Trends in Molecular Medicine. 9(10), 407-9
  • FARDAEI, M., ROGERS, M.T., THORPE, H.M., LARKIN, K., HAMSHERE, M.G., HARPER, P.S. and BROOK, J.D., 2002. Human Molecular Genetics. 11(7), 805-814
  • GHOSH, T.K., PACKHAM, E.A., BONSER, A.J., ROBINSON, T.E., CROSS, S.J. and BROOK, J.D., 2001. Human Molecular Genetics. 10(18), 1983-1994
  • FARDAEI, M., LARKIN, K., BROOK, J.D. and HAMSHERE, M.G., 2001. Nucleic Acids Research. 29(13), 2766-2771
  • AKRAMI, S.M., WINTER, R.M., BROOK, J.D. and ARMOUR, J.A., 2001. Journal of Medical Genetics. 38(12), E44
  • YI, C.H., RUSS, A. and BROOK, J.D., 2000. Genomics. 67(1), 92-95
  • HAMSHERE, M, CROSS, S, DANIELS, M, LENNON, G and BROOK, JD, 2000. GENOMICS. 63(3), 425-429
  • KOLLIAS, J, MAN, S, MARAFIE, M, CARPENTER, K, PINDER, S, ELLIS, IO, BLAMEY, RW, CROSS, G and BROOK, JD, 2000. BREAST CANCER RESEARCH AND TREATMENT. 64(3), 241-251
  • YI, C.H., TERRETT, J.A., LI, Q.Y., ELLINGTON, K., PACKHAM, E.A., ARMSTRONG-BUISSERET, L., MCCLURE, P., SLINGSBY, T. and BROOK, J.D., 1999. Genomics. 55(1), 10-20
  • HAMSHERE, M.G., HARLEY, H., HARPER, P., BROOK, J.D. and BROOKFIELD, J.F., 1999. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions Journal of Medical Genetics. 36(1), 59-61
  • ALWAZZAN, M., NEWMAN, E., HAMSHERE, M.G. and BROOK, J.D., 1999. Human Molecular Genetics. 8(8), 1491-1497
  • ALWAZZAN, M, HAMSHERE, MG, LENNON, GG and BROOK, JD, 1998. MAMMALIAN GENOME. 9(6), 485-487
  • LI, Q.Y., NEWBURY-ECOB, R.A., TERRETT, J.A., WILSON, D.I., CURTIS, A.R., YI, C.H., GEBUHR, T., BULLEN, P.J., ROBSON, S.C., STRACHAN, T., BONNET, D., LYONNET, S., YOUNG, I.D., RAEBURN, J.A., BUCKLER, A.J., LAW, D.J and , 1997. Nature Genetics. 15(1), 21-29
  • HAMSHERE, M.G., NEWMAN, E.E., ALWAZZAN, M., ATHWAL, B.S. and BROOK, J.D., 1997. Proceedings of the National Academy of Sciences of the United States of America. 94(14), 7394-7399
  • MAN, S., ELLIS, I.O., SIBBERING, M., BLAMEY, R.W. and BROOK, J.D., 1996. High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers Cancer Research. 56(23), 5484-5489
  • LI, Q.Y., LENNON, G.G. and BROOK, J.D., 1996. Genomics. 32(2), 218-224
  • TERRETT, J.A., NEWBURY-ECOB, R., SMITH, N.M., LI, Q.Y., GARRETT, C., COX, P., BONNET, D., LYONNET, S., MUNNICH, A., BUCKLER, A.J. and BROOK, J.D., 1996. A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. American Journal of Human Genetics. 59(6), 1337-1341
  • FOSTER, J.W., SCHAFER, A.J., CRITCHER, R., SPILLETT, D.J., FEAKES, R.W., WALTER, M.A., DOMINGUEZ-STEGLICH, M., GUIOLI, S., BROOK, J.D. and GOODFELLOW, P. N, 1996. Genomics. 33(2), 185-192
  • HAMSHERE, M.G. and BROOK, J.D., 1996. Trends in Genetics. 12(9), 332-334
  • KWOK, C, WELLER, PA, GUIOLI, S, FOSTER, JW, MANSOUR, S, ZUFFARDI, O, PUNNETT, HH, DOMINGUEZSTEGLICH, MA, BROOK, JD, YOUNG, ID, GOODFELLOW, PN and SCHAFER, AJ, 1995. MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL AMERICAN JOURNAL OF HUMAN GENETICS. 57(5), 1028-1036
  • TERRETT, JA, NEWBURYECOB, R, CROSS, GS, FENTON, I, RAEBURN, JA, YOUNG, ID and BROOK, JD, 1994. NATURE GENETICS. 6(4), 401-404
  • FOSTER, JW, DOMINGUEZSTEGLICH, MA, GUIOLI, S, KWOK, C, WELLER, PA, STEVANOVIC, M, WEISSENBACH, J, MANSOUR, S, YOUNG, ID, GOODFELLOW, PN, BROOK, JD and SCHAFER, AJ, 1994. NATURE. 372(6506), 525-530
  • WASCO, W, BROOK, JD and TANZI, RE, 1993. GENOMICS. 15(1), 237-239
  • SHAW, DJ, CHAUDHARY, S, RUNDLE, SA, CROW, S, BROOK, JD, HARPER, PS and HARLEY, HG, 1993. JOURNAL OF MEDICAL GENETICS. 30(3), 189-192
  • NOKELAINEN, P, SHELBOURNE, P, SHAW, D, BROOK, JD, HARLEY, HG, JOHNSON, K, SOMER, H, SAVONTAUS, ML and PELTONEN, L, 1993. CLINICAL GENETICS. 43(4), 190-195
  • HARLEY, HG, RUNDLE, SA, MACMILLAN, JC, MYRING, J, BROOK, JD, CROW, S, REARDON, W, FENTON, I, SHAW, DJ and HARPER, PS, 1993. SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE AND PARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY AMERICAN JOURNAL OF HUMAN GENETICS. 52(6), 1164-1174
  • SHAW, DJ, MCCURRACH, M, RUNDLE, SA, HARLEY, HG, CROW, SR, SOHN, R, THIRION, JP, HAMSHERE, MG, BUCKLER, AJ, HARPER, PS, HOUSMAN, DE and BROOK, JD, 1993. GENOMICS. 18(3), 673-679
  • CROW, S. R., HARLEY, H. G., BROOK, J. D., RUNDLE, S. A. and SHAW, D. J., 1992. Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat Human Molecular Genetics. 1(6), 451
  • HARLEY, HG, RUNDLE, SA, REARDON, W, MYRING, J, CROW, S, BROOK, JD, HARPER, PS and SHAW, DJ, 1992. LANCET. 339(8802), 1125-1128
  • BROOK, JD, MCCURRACH, ME, HARLEY, HG, BUCKLER, AJ, CHURCH, D, ABURATANI, H, HUNTER, K, STANTON, VP, THIRION, JP, HUDSON, T, SOHN, R, ZEMELMAN, B, SNELL, RG, RUNDLE, SA, CROW, S, DAVIES, J, SHELBOURNE, P, BUXTON, J, JONES, C, JUVONEN, V, JOHNSON, K, HARPER, PS, SHAW, DJ and HOUSMAN, DE, 1992. CELL. 68(4), 799-808
  • REARDON, W, HARLEY, HG, BROOK, JD, RUNDLE, SA, CROW, S, HARPER, PS and SHAW, DJ, 1992. JOURNAL OF MEDICAL GENETICS. 29(11), 770-773
  • HARLEY, HG, BROOK, JD, RUNDLE, SA, CROW, S, REARDON, W, BUCKLER, AJ, HARPER, PS, HOUSMAN, DE and SHAW, DJ, 1992. NATURE. 355(6360), 545-546
  • BROOK, JD, ZEMELMAN, BV, HADINGHAM, K, SICILIANO, MJ, CROW, S, HARLEY, HG, RUNDLE, SA, BUXTON, J, JOHNSON, K, ALMOND, JW, HOUSMAN, DE and SHAW, DJ, 1992. GENOMICS. 13(2), 243-250
  • BUXTON, J, SHELBOURNE, P, DAVIES, J, JONES, C, PERRYMAN, MB, ASHIZAWA, T, BUTLER, R, BROOK, D, SHAW, D, DEJONG, P, MARKHAM, A, WILLIAMSON, R and JOHNSON, K, 1992. GENOMICS. 13(3), 526-531
  • JANSEN, G, DEJONG, PJ, AMEMIYA, C, ASLANIDIS, C, SHAW, DJ, HARLEY, HG, BROOK, JD, FENWICK, R, KORNELUK, RG, TSILFIDIS, C, SHUTLER, G, HERMENS, R, WORMSKAMP, NGM, SMEETS, HJM and WIERINGA, B, 1992. GENOMICS. 13(3), 509-517
  • SAMULSKI, RJ, ZHU, X, XIAO, X, BROOK, JD, HOUSMAN, DE, EPSTEIN, N and HUNTER, LA, 1991. EMBO JOURNAL. 10(12), 3941-3950
  • HARLEY, HG, BROOK, JD, FLOYD, J, RUNDLE, SA, CROW, S, WALSH, KV, THIBAULT, MC, HARPER, PS and SHAW, DJ, 1991. DETECTION OF LINKAGE DISEQUILIBRIUM BETWEEN THE MYOTONIC-DYSTROPHY LOCUS AND A NEW POLYMORPHIC DNA MARKER AMERICAN JOURNAL OF HUMAN GENETICS. 49(1), 68-75
  • GEISSLER, EN, LIAO, M, BROOK, JD, MARTIN, FH, ZSEBO, KM, HOUSMAN, DE and GALLI, SJ, 1991. SOMATIC CELL AND MOLECULAR GENETICS. 17(2), 207-214
  • BROOK, JD, HARLEY, HG, WALSH, KV, RUNDLE, SA, SICILIANO, MJ, HARPER, PS and SHAW, DJ, 1991. JOURNAL OF MEDICAL GENETICS. 28(2), 84-88
  • PELLETIER, J, BROOK, JD and HOUSMAN, DE, 1991. GENOMICS. 10(4), 1079-1082
  • RICHARDS, RI, HOLMAN, K, SHEN, Y, KOZMAN, H, HARLEY, H, BROOK, D and SHAW, D, 1991. GENOMICS. 11(1), 77-82
  • BUCKLER, AJ, CHANG, DD, GRAW, SL, BROOK, JD, HABER, DA, SHARP, PA and HOUSMAN, DE, 1991. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 88(9), 4005-4009
  • HARLEY, HG, WALSH, KV, RUNDLE, S, BROOK, JD, SARFARAZI, M, KOCH, MC, FLOYD, JL, HARPER, PS and SHAW, DJ, 1991. HUMAN GENETICS. 87(1), 73-80
  • BROOK, JD, KNIGHT, SJL, ROBERTS, SH, HARLEY, HG, WALSH, KV, RUNDLE, SA, FREYNE, K, KOCH, MC, EPSTEIN, ND, WIERINGA, B, SCHONK, D, SMEETS, H, HADDINGHAM, K, SICILIANO, MJ, PALMER, DK, MILES, JS, WOLF, CR, FONATSCH, C and SHAW, DJ, 1991. HUMAN GENETICS. 87(1), 65-72
  • BROOK, JD, HARLEY, HG, RUNDLE, SA, WALSH, KV and SHAW, DJ, 1990. NUCLEIC ACIDS RESEARCH. 18(16), 4962-4962
  • WALSH, KV, HARLEY, HG, BROOK, JD, RUNDLE, SA, SARFARAZI, M, HARPER, PS and SHAW, DJ, 1990. LINKAGE RELATIONSHIPS OF THE APOLIPOPROTEIN C1 GENE AND A CYTOCHROME-P450 GENE (CYP2A) TO MYOTONIC-DYSTROPHY HUMAN GENETICS. 85(3), 305-310
  • BROOK, JD, WALSH, KV, HARLEY, HG, RUNDLE, SA and SHAW, DJ, 1990. NUCLEIC ACIDS RESEARCH. 18(4), 1086-1086
  • BROOK, JD, UPADHYAYA, M, BROADHEAD, W, RUNDLE, SA, WALSH, KV, HARLEY, HG and SHAW, DJ, 1990. A HINDIII POLYMORPHISM IDENTIFIED BY A DNA CLONE WHICH MAPS TO CHROMOSOME-17 (D17S245) NUCLEIC ACIDS RESEARCH. 18(4), 1085-1085
  • SHAW, DJ, HARLEY, HG, BROOK, JD and MCKEITHAN, TW, 1989. HUMAN GENETICS. 83(1), 71-74
  • MILES, JS, BICKMORE, W, BROOK, JD, MCLAREN, AW, MEEHAN, R and WOLF, CR, 1989. NUCLEIC ACIDS RESEARCH. 17(8), 2907-2917
  • NIMMO, E, PADUA, RA, HUGHES, D, BROOK, JD, WILLIAMSON, R and JOHNSON, KJ, 1989. HUMAN GENETICS. 81(4), 382-384
  • GRIGGS, RC and WOOD, DS, 1989. NEUROLOGY. 39(3), 420-421
  • BROOK, JD and SHAW, DJ, 1988. NUCLEIC ACIDS RESEARCH. 16(15), 7751-7751
  • BROOK, JD, BERESFORD, HR, SHAW, DJ, OLD, LJ and RETTIG, WJ, 1987. CYTOGENETICS AND CELL GENETICS. 45(3-4), 156-162
  • BROOK J D, SKINNER M, ROBERTS S H, RETTIG W J, ALMOND J W and SHAW D J, 1987. FURTHER MAPPING OF MARKERS AROUND THE CENTROMERE OF HUMAN CHROMOSOME 19 Genomics. 1(4), 320-328
  • SPURR, NK, HUGHES, D, GOODFELLOW, PN, BROOK, JD and PADUA, RA, 1986. SOMATIC CELL AND MOLECULAR GENETICS. 12(6), 637-640
  • SHAW, DJ, MEREDITH, AL, BROOK, JD, SARFARAZI, M, HARLEY, HG, HUSON, SM, BELL, GI and HARPER, PS, 1986. LINKAGE RELATIONSHIPS OF THE INSULIN-RECEPTOR GENE WITH THE COMPLEMENT COMPONENT-3, LDL RECEPTOR, APOLIPOPROTEIN-C2 AND MYOTONIC-DYSTROPHY LOCI ON CHROMOSOME-19 HUMAN GENETICS. 74(3), 267-269
  • SHAW, DJ, MEREDITH, AL, SARFARAZI, M, HARLEY, HG, HUSON, SM, BROOK, JD, BUFTON, L, LITT, M, MOHANDAS, T and HARPER, PS, 1986. REGIONAL LOCALIZATIONS AND LINKAGE RELATIONSHIPS OF 7 RFLPS AND MYOTONIC-DYSTROPHY ON CHROMOSOME-19 HUMAN GENETICS. 74(3), 262-266
  • SHAW, DJ, BROOK, JD, MEREDITH, AL, HARLEY, HG, SARFARAZI, M and HARPER, PS, 1986. JOURNAL OF MEDICAL GENETICS. 23(1), 2-10
  • BUFTON, L, BRUNS, GAP, MAGENIS, RE, TOMAR, D, SHAW, D, BROOK, D and LITT, M, 1986. 4 RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS REVEALED BY PROBES FROM A SINGLE COSMID MAP TO CHROMOSOME-19 AMERICAN JOURNAL OF HUMAN GENETICS. 38(4), 447-460
  • SHAW, DJ, BROOK, JD, BROWN, CS and THOMAS, NST, 1986. SOMATIC CELL AND MOLECULAR GENETICS. 12(4), 333-337
  • BROOK, JD and CHANDLEY, AC, 1986. TESTING FOR THE CHEMICAL INDUCTION OF ANEUPLOIDY IN THE MALE-MOUSE MUTATION RESEARCH. 164(2), 117-125
  • BROOK, JD, SHAW, DJ, THOMAS, NST, MEREDITH, AL, COWELL, J and HARPER, PS, 1986. CYTOGENETICS AND CELL GENETICS. 41(1), 30-37
  • MEREDITH, AL, HUSON, SM, LUNT, PW, SARFARAZI, M, HARLEY, HG, BROOK, JD, SHAW, DJ and HARPER, PS, 1986. BRITISH MEDICAL JOURNAL. 293(6558), 1353-1356
  • SCOTT, J, KNOTT, TJ, SHAW, DJ and BROOK, JD, 1985. LOCALIZATION OF GENES ENCODING APOLIPOPROTEINS CI, CII, AND E TO THE P13-]CEN REGION OF HUMAN CHROMOSOME-19 HUMAN GENETICS. 71(2), 144-146
  • SHAW, DJ, MEREDITH, AL, SARFARAZI, M, HUSON, SM, BROOK, JD, MYKLEBOST, O and HARPER, PS, 1985. THE APOLIPOPROTEIN-CII GENE - SUBCHROMOSOMAL LOCALIZATION AND LINKAGE TO THE MYOTONIC-DYSTROPHY LOCUS HUMAN GENETICS. 70(3), 271-273
  • WORWOOD, M, BROOK, JD, CRAGG, SJ, HELLKUHL, B, JONES, BM, PERERA, P, ROBERTS, SH and SHAW, DJ, 1985. HUMAN GENETICS. 69(4), 371-374
  • BROOK, JD and CHANDLEY, AC, 1985. TESTING OF 3 CHEMICAL-COMPOUNDS FOR ANEUPLOIDY INDUCTION IN THE FEMALE MOUSE MUTATION RESEARCH. 157(2-3), 215-220
  • BROOK, JD, SHAW, DJ and MEREDITH, AL, 1985. BIOTECHNOLOGY & GENETIC ENGINEERING REVIEWS. 3, 311-347
  • HARPER, P S, SHAW, D, MEREDITH, L, SARFARAZI, M, BROOK, D and HUSON, S, 1985. Gene mapping and myotonic dystrophy. Progress in clinical and biological research. 177, 61-76
  • BROOK, JD, SHAW, DJ, MEREDITH, L, BRUNS, GAP and HARPER, PS, 1984. HUMAN GENETICS. 68(4), 282-285
  • BROOK, JD, 1983. GENETICAL RESEARCH. 41(1), 85-95
  • BROOK, JD, 1982. THE EFFECT OF 4CMB ON GERM-CELLS OF THE MOUSE MUTATION RESEARCH. 100(1-4), 305-308
  • GRANADOS-RIVERON JT, POPE M, BU'LOCK FA, THORNBOROUGH C, EASON J, SETCHFIELD K, KETLEY A, KIRK EP, FATKIN D, FENELEY MP, HARVEY RP and BROOK JD, 1. Congenital heart disease. 7(2), 151-9

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