Research Topics
Genomes and Genes | David R FitzpatrickSummaryAffiliation: National Institute for Medical Research Country: UK Publications
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Publications
Transcriptome analysis of human autosomal trisomyDavid R Fitzpatrick
MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
Hum Mol Genet 11:3249-56. 2002..It seems likely that the degree of this misregulation determines the severity of the phenotype in most aneuploidy...- Identification of SATB2 as the cleft palate gene on 2q32-q33David R Fitzpatrick
Cell and Molecualr Genentics, MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
Hum Mol Genet 12:2491-501. 2003..Despite the strong evidence supporting an important role for SATB2 in palate development, mutation analysis of 70 unrelated patients with CPO did not reveal any coding region variants... - Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effectsDavid R Fitzpatrick
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Trends Genet 21:249-53. 2005..In this article, I propose a model of the main genetic mechanisms that are responsible for producing the transcriptional derangement associated with trisomy. This has implications for future study design... 
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsLouise Harewood
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, Edinburgh, United Kingdom
PLoS ONE 5:e12375. 2010..In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases...- Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson
Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Hum Mol Genet 15:1413-22. 2006..SOX2, with NMYC and CHD7, is now the third transcriptional regulator known to be critical for normal oesophageal development in humans... - Anophthalmia and microphthalmiaAmit S Verma
MRC Human Genetics Unit, Edinburgh, UK
Orphanet J Rare Dis 2:47. 2007..The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics... 
Enhancer-adoption as a mechanism of human developmental diseaseLaura A Lettice
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh
Hum Mutat 32:1492-9. 2011..This developmental genetic mechanism may explain a proportion of the novel or unexplained phenotypes associated with balanced chromosome rearrangements...- 'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
Clin Dysmorphol 19:5-13. 2010..We cannot assign a specific genetic mechanism in the translocation case but developmental disregulation of gene expression at one, or both, breakpoints may provide an explanation for the phenotype... - Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger
Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
PLoS Genet 7:e1002114. 2011..Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice... - An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray
South east Scotland Clinical Genetics Services Western General Hospital, Edinburgh, UK
Clin Dysmorphol 21:22-3. 2012..Herein we describe a patient with a rare intragenic deletion of NIPBL who has typical microcephaly and developmental problems but atypical growth pattern and facial features... - Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papillaRachel Berry
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
Hum Mol Genet 20:917-26. 2011..Taken together, these results suggest that Esrrg is required for early branching events of the ureteric duct that occur prior to the onset of nephrogenesis. These findings confirm ESRRG as a strong candidate gene for CAKUT... - Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3Sixto Garcia-Minaur
South East of Scotland Genetics Service, Western General Hospital, Edinburgh, United Kingdom
Am J Med Genet A 132:402-10. 2005..Molecular studies need to be performed on these patients, to establish genotype-phenotype correlation and to understand the role and influence of genes in this region... - Mutations in SOX2 cause anophthalmiaJudy Fantes
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Nat Genet 33:461-3. 2003..2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation... - Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal motherLaurence Faivre
, , Dijon, France
Am J Med Genet A 140:636-9. 2006 - Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 80:550-60. 2007..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group... - Evolutionarily conserved sequence elements that positively regulate IFN-gamma expression in T cellsMaria Shnyreva
Department of Immunology, University of Washington, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 101:12622-7. 2004..Like IFN-gamma expression, these histone modifications were T-bet-dependent in CD4+ cells, but not CD8+ T cells. These findings define two distal regulatory elements associated with T cell subset-specific IFN-gamma expression... - Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge
Department of Adnexal Surgery, Moorfields Eye Hospital, London, United Kingdom
Am J Hum Genet 76:1008-22. 2005..The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling... - SOX2 anophthalmia syndromeNicola K Ragge
Adnexal Service, Moorfields Eye Hospital, London, United Kingdom
Am J Med Genet A 135:1-7; discussion 8. 2005.... - Human-specific gain of function in a developmental enhancerShyam Prabhakar
Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
Science 321:1346-50. 2008.... - Single-cell perforin and granzyme expression reveals the anatomical localization of effector CD8+ T cells in influenza virus-infected miceBarbara J Johnson
Cooperative Research Centre for Vaccine Technology and Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, Queensland 4029, Australia
Proc Natl Acad Sci U S A 100:2657-62. 2003..The data suggest that some CTL mature into perforin/granzyme-expressing effector cells in MLN but reach detectable frequencies only when they accumulate in the infected lung... - Murine plasmacytoid pre-dendritic cells generated from Flt3 ligand-supplemented bone marrow cultures are immature APCsPierre Brawand
Amgen Inc, Seattle, WA 98101, USA
J Immunol 169:6711-9. 2002..Thus, the in vitro generation of murine pDCs may serve as a useful tool to further investigate pDC biology as well as the potential role of these cells in viral immunity and other settings... - Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrederic Lirussi
Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
Am J Med Genet A 143:2796-803. 2007..5. Because this minimal region of haplo-insufficiency falls into a common region of deletion in 18q- syndrome, we inferred that this macroglossia condition would follow a recessive pattern of inheritance... - Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gammaJamie R Schoenborn
Department of Immunology, University of Washington, Seattle, Washington 98195, USA
Nat Immunol 8:732-42. 2007..Our findings suggest that proper expression of Ifng is maintained through the collective action of multiple distal regulatory elements present in a region of about 100 kilobases flanking Ifng... - Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson
Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK
Eur J Hum Genet 15:898-901. 2007..This case shows that patients with complex phenotypes should not be eliminated from subsequent mutation analysis after one or even two mutations are found... - CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1Birgitta Winnepenninckx
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Am J Hum Genet 80:221-31. 2007..These data suggest that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A... - Rapid demethylation of the IFN-gamma gene occurs in memory but not naive CD8 T cellsEllen N Kersh
Emory Vaccine Center and Department of Microbiology and Immunology, Emory University School of Medicine, Atlanta, GA 30322, USA
J Immunol 176:4083-93. 2006.... - Methylation and demethylation in the regulation of genes, cells, and responses in the immune systemDavid R Fitzpatrick
Immunological Systems Department, Amgen Inc, 51 University St, Seattle, WA 98101, USA
Clin Immunol 109:37-45. 2003..The immune system is a fertile field for studies of epigenetic regulation of cell fate and function... 
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateAlexandre R Vieira
Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
PLoS Genet 1:e64. 2005..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations...- 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt
Department of Medical Genetics, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 77:154-60. 2005..The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome... - Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cellsKaren W Makar
Department of Immunology, University of Washington, Seattle, Washington 98195, USA
Nat Immunol 4:1183-90. 2003..These results indicate that Dnmts, DNA and histone methylation, and transcription factors 'collaborate' to determine appropriate Il4 expression patterns... - An excess of chromosome 1 breakpoints in male infertilityIben Bache
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, The Panum Institute, University of Copenhagen, Denmark
Eur J Hum Genet 12:993-1000. 2004..We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility... - Role of SOX2 mutations in human hippocampal malformations and epilepsySanjay M Sisodiya
Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK
Epilepsia 47:534-42. 2006..We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies...