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Prof Peter Scambler

Research Summary

Our goal is to elucidate the genetic and developmental basis of congenital malformations. Previous and current work indicates that this can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11 casuing DiGeorge syndrome is the greatest known genetic risk factor for schizophrenia. Clinical and diagnosis and prognosis can be improved, and in some cases there is the prospect of new therapeutic intervention. Two genes under investigation (Tbx1 and Hira) have roles in progenitor or stem cell populations.

The tools used include creation and analysis of models in mouse and zebrafish. We explore novel methods of imaging the phenotypes observed (in collaboration with UCL's CABI). In humans, genetic approaches include high resolution, genome-wide, screens and sequencing, in particular making use of consanguineous families. We also collaborate across non-life science faculties via the CoMPLEX programme.

Research Activities

  • Genetic and Developmental Genetics of Human Birth Defects
  • Genetics of early CNS malformations, cleft lip and cleft palate
  • Normal and abnormal kidney and renal tract development
  • Nuclear receptor post-translational modifications in cardiovascular disease and inflammation
  • Pathogenesis of craniofacial birth defects.

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Papangeli I,Scambler PJ (2013) Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling. Circ Res, 112(1), 90 - 102. 10.1161/CIRCRESAHA.112.270223.
  2. Norris FC,Modat M,Cleary JO,Price AN,McCue K,Scambler PJ,Ourselin S,Lythgoe MF (2013) Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation. Magn Reson Med, 69(3), 877 - 883. 10.1002/mrm.24306.
  3. Pitera JE,Turmaine M,Woolf AS,Scambler PJ (2012) Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. Genesis, 50(12), 892 - 898. 10.1002/dvg.22045.
  4. Schmidts M,Arts HH,Yap Z,Bongers EMHF,Anthony D,Oud MM,al Turki S,Duijkers L,Stalker J,Yntema JBL,Hoischen A,Gilissen C,Veltman J,Hurles ME,Kamsteeg EJ,Scambler P,Beales PL,Knoers NVAM,Roepman R,Mitchison HM (2012) Mutations in DYNC2H1 are common in Jeune Asphyxating Thoracic Dysplasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement JOURNAL OF MEDICAL GENETICS, 49, S38 - S38.
  5. Laufer J,Norris F,Cleary J,Zhang E,Treeby B,Cox B,Johnson P,Scambler P,Lythgoe M,Beard P (2012) In vivo photoacoustic imaging of mouse embryos. J Biomed Opt, 17(6), 061220. 10.1117/1.JBO.17.6.061220.
  6. Kerecuk L,Long DA,Ali Z,Anders C,Kolatsi-Joannou M,Scambler PJ,Woolf AS (2012) Expression of Fraser syndrome genes in normal and polycystic murine kidneys. Pediatr Nephrol, 27(6), 991 - 998. 10.1007/s00467-012-2100-5.
  7. Pitera JE,Woolf AS,Basson MA,Scambler PJ (2012) Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. J Am Soc Nephrol, 23(11), 1790 - 1796. 10.1681/ASN.2012020146.
  8. Vogel MJ,van Zon P,Brueton L,Gijzen M,van Tuil MC,Cox P,Schanze D,Kariminejad A,Ghaderi-Sohi S,Blair E,Zenker M,Scambler PJ,Ploos van Amstel HK,van Haelst MM (2012) Mutations in GRIP1 cause Fraser syndrome. J Med Genet, 49(5), 303 - 306. 10.1136/jmedgenet-2011-100590.
  9. Voss AK,Vanyai HK,Collin C,Dixon MP,McLennan TJ,Sheikh BN,Scambler P,Thomas T (2012) MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell, 23(3), 652 - 663. 10.1016/j.devcel.2012.07.010.
  10. Cleary JO,Modat M,Norris FC,Price AN,Jayakody SA,Martinez-Barbera JP,Greene ND,Hawkes DJ,Ordidge RJ,Scambler PJ,Ourselin S,Lythgoe MF (2011) Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping. Neuroimage, 54(2), 769 - 778. 10.1016/j.neuroimage.2010.07.039.
  11. Aza-Carmona M,Shears DJ,Yuste-Checa P,Barca-Tierno V,Hisado-Oliva A,Belinchón A,Benito-Sanz S,Rodríguez JI,Argente J,Campos-Barros A,Scambler PJ,Heath KE (2011) SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Hum Mol Genet, 20(8), 1547 - 1559. 10.1093/hmg/ddr032.
  12. Davis EE,Zhang Q,Liu Q,Diplas BH,Davey LM,Hartley J,Stoetzel C,Szymanska K,Ramaswami G,Logan CV,Muzny DM,Young AC,Wheeler DA,Cruz P,Morgan M,Lewis LR,Cherukuri P,Maskeri B,Hansen NF,Mullikin JC,Blakesley RW,Bouffard GG,NISC Comparative Sequencing Program ,Gyapay G,Rieger S,Tönshoff B,Kern I,Soliman NA,Neuhaus TJ,Swoboda KJ,Kayserili H,Gallagher TE,Lewis RA,Bergmann C,Otto EA,Saunier S,Scambler PJ,Beales PL,Gleeson JG,Maher ER,Attié-Bitach T,Dollfus H,Johnson CA,Green ED,Gibbs RA,Hildebrandt F,Pierce EA,Katsanis N (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet, 43(3), 189 - 196. 10.1038/ng.756.
  13. Rix S,Calmont A,Scambler PJ,Beales PL (2011) An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet, 20(7), 1306 - 1314. 10.1093/hmg/ddr013.
  14. Lau K,Diaz V,Scambler P,Burriesci G (2011) Fluid-Structure Interaction Study of the Edge-to-Edge Repair Technique on the Mitral Valve Journal of Biomechanics, 44(13), 2409 - 2417. 10.1016/j.jbiomech.2011.06.030.
  15. Alam-Faruque Y,Huntley RP,Khodiyar VK,Camon EB,Dimmer EC,Sawford T,Martin MJ,O'Donovan C,Talmud PJ,Scambler P,Apweiler R,Lovering RC (2011) The impact of focused Gene Ontology curation of specific mammalian systems. PLoS One, 6(12), e27541. 10.1371/journal.pone.0027541.
  16. Khodiyar VK,Hill DP,Howe D,Berardini TZ,Tweedie S,Talmud PJ,Breckenridge R,Bhattarcharya S,Riley P,Scambler P,Lovering RC (2011) The representation of heart development in the gene ontology. Dev Biol, 354(1), 9 - 17. 10.1016/j.ydbio.2011.03.011.
  17. Wong YF,Kopp JB,Roberts C,Scambler PJ,Abe Y,Rankin AC,Dutt N,Hendry BM,Xu Q (2011) Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system. PLoS One, 6(2), e16770. 10.1371/journal.pone.0016770.
  18. Norris FC,Cleary JO,Modat M,Sinclair B,Mccue K,Wells JA,Martinez-Barbera JP,Brander S,Fisher E,Scambler PJ,Ourselin S,Lythgoe MF (2011) Mouse phenotyping using high resolution 3D microscopic magnetic resonance imaging GENETICS RESEARCH, 93(6), 440 - 440.
  19. van Bueren KL,Papangeli I,Rochais F,Pearce K,Roberts C,Calmont A,Szumska D,Kelly RG,Bhattacharya S,Scambler PJ (2010) Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol, 340(2), 369 - 380. 10.1016/j.ydbio.2010.01.020.
  20. Scambler PJ (2010) 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr Cardiol, 31(3), 378 - 390. 10.1007/s00246-009-9613-0.
  21. Alam-Faruque Y,Dimmer EC,Huntley RP,O'Donovan C,Scambler P,Apweiler R (2010) The Renal Gene Ontology Annotation Initiative. Organogenesis, 6(2), 71 - 75.
  22. Shah N,Thompson A,Strautnieks S,Milla P,Hill S,Lindley K,Thapar N,Scambler P,Thompson R (2010) PREDICTING THE OUTCOME OF CONGENITAL INTESTINAL FAILURE J PEDIATR GASTR NUTR, 50, E171 - E172.
  23. Rix S,Hernandez V,Scambler P,Beales PL (2010) A hypomorphic Ift80 genetrap mouse line phenocopies short rib polydactyly syndromes owing to defects in hedgehog signalling JOURNAL OF MEDICAL GENETICS, 47, S81 - S81.
  24. Griffin HR,Töpf A,Glen E,Zweier C,Stuart AG,Parsons J,Peart I,Deanfield J,O'Sullivan J,Rauch A,Scambler P,Burn J,Cordell HJ,Keavney B,Goodship JA (2010) Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20), 1651 - 1655. 10.1136/hrt.2010.200121.
  25. Lau K,Diaz-Zuccarini V,Scambler P,Burriesci G (2010) Mitral Valve dynamics in structural and fluid-structure interaction models. Medical Engineering and Physics, 32(9-2), 1057 - 1064.
  26. Li Y,Pawlik B,Elcioglu N,Aglan M,Kayserili H,Yigit G,Percin F,Goodman F,Nürnberg G,Cenani A,Urquhart J,Chung BD,Ismail S,Amr K,Aslanger AD,Becker C,Netzer C,Scambler P,Eyaid W,Hamamy H,Clayton-Smith J,Hennekam R,Nürnberg P,Herz J,Temtamy SA,Wollnik B (2010) LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet, 86(5), 696 - 706. 10.1016/j.ajhg.2010.03.004.
  27. Goldberg AD,Banaszynski LA,Noh KM,Lewis PW,Elsaesser SJ,Stadler S,Dewell S,Law M,Guo X,Li X,Wen D,Chapgier A,DeKelver RC,Miller JC,Lee YL,Boydston EA,Holmes MC,Gregory PD,Greally JM,Rafii S,Yang C,Scambler PJ,Garrick D,Gibbons RJ,Higgs DR,Cristea IM,Urnov FD,Zheng D,Allis CD (2010) Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell, 140(5), 678 - 691. 10.1016/j.cell.2010.01.003.
  28. Papangeli I,van Bueren KL,Pearce K,Roberts C,Szumska D,Bhattacharya S,Scambler PJ (2009) Dissecting the embryonic requirement of the Notch pathway gene, Hes1, in the context of DiGeorge syndrome Mechanisms of Development, 126, S130 - S130.
  29. Calmont A,Ivins S,van Bueren KL,Papangeli I,Kyriakopoulou V,Andrews W,Martin J,Moon A,Illingworth E,Basson A,Scambler P (2009) Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm Mechanisms of Development, 126, S195 - S196.
  30. Lau KD,Diaz V,Burriesci G,Scambler P (2009) Modelling and simulation of the mitral valve under physiological and pathological conditions: a primer study. International Journal of Artificial Organs, 32(7), 400.
  31. Hanson D,Murray PG,Sud A,Remtamy SA,Aglan M,Superti-Furga A,Holder SE,Urquhart J,Hilton E,Manson FDC,Scambler P,Black GCM,Clayton PE (2009) The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 American Journal of Human Genetics, 84(6), 801 - 806.
  32. Cleary JO,Price AN,Modat M,Thomas DL,Scambler PJ,Kyriakopoulu V,Ordidge RJ,Our-Selin S,Lythgoe MF (2009) Novel phenotyping methods using microMRI Genetics Research, 91(2), 138 - 138.
  33. Cleary JO,Price AN,Thomas DL,Scambler PJ,Kyriakopoulou V,McCue K,Schneider JE,Ordidge RJ,Lythgoe MF (2009) Cardiac phenotyping in ex vivo murine embryos using microMRI NMR Biomed.
  34. Koziell AB,Waters A,Romio L,Welsh GI,Witherden A,Hussain S,Mathieson PW,Scambler P,Saleem M (2009) NEPHRIN INTERACTS WITH END BINDING PROTEIN-1 AND REGULATES MICROTUBULAR FUNCTION AND CILIAL ASSEMBLY IN PODOCYTES. PEDIATR NEPHROL, 24(9), 1800 - 1800.
  35. Koziell AB,Green G,Kim J,Milford D,Welsh G,Scambler P,Saleem MA,Shaw AS (2009) CD2AP MUTATIONS DISRUPT CD2AP-NEPHRIN BINDING AND ARE A CAUSE OF IDIOPATHIC DIFFUSE MESANGIAL SCLEROSIS IN CHILDHOOD. PEDIATR NEPHROL, 24(9), 1780 - 1781. 10.1007/s00467-009-1250-6.
  36. Calmont A,Ivins S,Van Bueren KL,Papangeli I,Kyriakopoulou V,Andrews WD,Martin JF,Moon AM,Illingworth EA,Basson MA,Scambler PJ (2009) Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm DEVELOPMENT, 136(18), 3173 - 3183. 10.1242/dev.028902.
  37. Randall V,Mccue K,Roberts C,Kyriakopoulou V,Beddow S,Barrett AN,Vitelli F,Prescott K,Shaw-Smith C,Devriendt K,Bosman E,Steffes G,Steel KP,Simrick S,Basson MA,Illingworth E,Scambler PJ (2009) Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice J Clin Invest, 119(11), 3301 - 3310.
  38. Fulcoli FG,Huynh T,Scambler PJ,Baldini A (2009) Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One, 4(6), e6049. 10.1371/journal.pone.0006049.
  39. Hanson DE,Murray PG,Sud A,Temtamy SA,Aglan M,Superti-Furga A,Holder SE,Urquhart J,Hilton E,Manson FDC,Scambler P,Clayton PE,Black GCM (2009) The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1 Hormone Research, 72, 26 - 26.
  40. Aza-Carmona M,Shears DJ,Barca-Tierno V,Belinchon A,ito-Sanz S,del Blanco DG,Argente J,Gracia R,Campos-Barros A,Scambler PJ,Heath KE (2009) Identification of the chondrogenesis related SOX5 and SOX6 transcription factors as SHOX interacting proteins Hormone Research, 72, 27 - 27.
  41. Roberts C,van Bueren KL,Scambler P (2009) Genetic interaction of tbx1 with the Notch pathway effector her6 is required for pharyngeal development in the zebrafish Mechanisms of Development, 126, S120 - S120.
  42. Mccue K,Randall V,Roberts C,Kyriakopoulou V,Vitelli F,Prescott K,Devriendt K,Shaw-Smith C,Simrick S,Basson MA,Illingworth E,Scambler P (2009) Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm Mechanisms of Development, 126, S131 - S131.
  43. Hanson D,Murray PG,Sud A,Temtamy SA,Aglan M,Superti-Furga A,Holder SE,Urquhart J,Hilton EN,Manson FDC,Scambler P,Clayton PE,Black GCM (2009) The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor Obscurin-Like 1 Journal of Medical Genetics, 46, S25 - S25.
  44. Lammerts van Beuren K,Scambler PJ (2009) FACS-GAL isolation of �-galactosidase expressing cells from mid gestation mouse embryos Nature Protocols (online), DOI: 10.1038/nprot.2009.164.
  45. Hussain S,Romio L,Saleem M,Mathieson P,Serrano M,Moscat J,Diaz-Meco M,Scambler P,Koziell A (2009) Nephrin deficiency activates NF-kappaB and promotes glomerular injury. J Am Soc Nephrol, 20(8), 1733 - 1743. 10.1681/ASN.2008111219.
  46. Roberts C,van Bueren KL,Scambler P (2009) Genetic interaction of tbx1 with the Notch pathway effector her6 is required for pharyngeal development in the zebrafish MECHANISMS OF DEVELOPMENT, 126, S120 - S120. 10.1016/j.mod.2009.06.228.
  47. Kerecuk L,Lange-Sperandio B,Rodenbeck B,Schaefer F,Long DA,Scambler PJ,Woolf AS (2009) GENE EXPRESSION PROFILING IN NEONATAL URETERIC OBSTRUCTION IMPLICATES UNSUSPECTED MOLECULES IN CONGENITAL OBSTRUCTIVE UROPATHY PEDIATR NEPHROL, 24(9), 1802 - 1802.
  48. Twigg SRF,Versnel SL,Nurnberg G,Lees MM,Bhat M,Hammond P,Hennekam RCM,Hoogeboom AJM,Hurst JA,Johnson D,Robinson AA,Scambler PJ,Gerrelli D,Nurnberg P,Mathijssen IMJ,Wilkie AOM (2009) Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene AM J HUM GENET, 84(5), 698 - 705. 10.1016/j.ajhg.2009.04.009.
  49. Calmont A,Ivins S,Roberts C,Van Bueren KL,Lindsay E,Baldini A,Scambler PJ (2008) Gbx2: a modifier of Tbx1 happloinsufficiency phenotype Genetical Research, 90(3), 288 - 288.
  50. Lovering R,Scambler P,Hubank M,Apweiler R,Talmud PJ (2008) CARDIOVASCULAR GENE ONTOLOGY INITIATIVE ATHEROSCLEROSIS SUPP, 9(1), 101 - 101.

Qualifications

  • 1986: Doctor of Medicine, University of Manchester
  • 1982: Bachelor of Medicine, Bachelor of Surgery, University of Manchester
  • 1979: Bachelor of Science (Honours), University of Manchester

Keywords

  • BAC recombination and related transgene approaches
  • Cardiovascular
  • Cell culture
  • Chromatin immunoprecipitation ChIP-Chip ChIP-Seq
  • Congenital disease
  • Craniofacial disease
  • Development
  • DiGeorge syndrome
  • Disease pathogenesis
  • ES cell manipulations
  • Epigenetics
  • Gene expression
  • Gene expression profiling - tissue level
  • Gene targeting
  • Genetic manipulation (including knockout/knockin)
  • Genetic screens
  • Genetically encoded reporters/indicators
  • Genetics
  • Genomic analyses
  • Hira:- role in development and stem cells
  • Histology
  • Imaging
  • In situ hybridisation
  • In vitro assays of cell function
  • In vivo models
  • MRI
  • Microarrays
  • Modelling
  • Models of disease
  • Mouse
  • QPCR
  • Stem cells
  • Transgenic mice
  • Western blotting
  • human birth defects