Research Topics
Genomes and Genes | Patrick GallagherSummaryAffiliation: Yale University Country: USA Publications
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Publications
A human beta-spectrin gene promoter directs high level expression in erythroid but not muscle or neural cellsP G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
J Biol Chem 274:6062-73. 1999..Only weak expression of the reporter gene was detected in muscle and brain tissue, suggesting that additional regulatory elements are required for high level expression of the beta-spectrin gene in these tissues...
Determinants of erythrocyte hydrationJesse Rinehart
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
Curr Opin Hematol 17:191-7. 2010..This study reviews recent progress in our understanding the determinants of erythrocyte hydration and its related disorders...
An insulator with barrier-element activity promotes alpha-spectrin gene expression in erythroid cellsPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Blood 113:1547-54. 2009..These data identify the first barrier element described in an erythrocyte membrane protein gene and indicate that exon 1' and intron 1' are excellent candidate regions for mutations in patients with spectrin-linked hemolytic anemia...- Erythrocyte disorders in the perinatal periodLaurie A Steiner
Division of Perinatal Medicine, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Semin Perinatol 31:254-61. 2007..This review focuses on the perinatal presentation and management of intrinsic erythrocyte disorders, as well as on the diagnosis and management of genetic conditions leading to erythrocyte underproduction... - Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosisPatrick G Gallagher
Departments of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA
J Clin Invest 120:4453-65. 2010..These data indicate that an upstream region of the ankyrin-1 erythroid promoter acts as a barrier insulator and identify disruption of the barrier element as a potential pathogenetic mechanism of human disease... - Hematologically important mutations: ankyrin variants in hereditary spherocytosisPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, P O Box 208064, New Haven, CT 06520 8064, USA
Blood Cells Mol Dis 35:345-7. 2005..In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report... - GATA-1 and Oct-1 are required for expression of the human alpha-hemoglobin-stabilizing protein genePatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
J Biol Chem 280:39016-23. 2005..The AHSP promoter is an excellent candidate region for mutations associated with decreased AHSP gene expression... - A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosisPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Hum Mol Genet 14:2501-9. 2005.... - Update on the clinical spectrum and genetics of red blood cell membrane disordersPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA
Curr Hematol Rep 3:85-91. 2004..Analysis of these defects has provided a better understanding of the pathogenesis of these disorders and allowed a better understanding of the structure/function relationships of the proteins of the erythrocyte membrane... - Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expressionP G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
J Biol Chem 276:41683-9. 2001..These data are the first demonstration of functional defects caused by HS-related, ankyrin gene promoter mutations... - A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosisP G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Br J Haematol 111:1190-3. 2000..This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene... - Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosisPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, PO Box 208064, 333 Cedar St, New Haven, CT 06520 8064
Blood 101:4625-7. 2003..Increased phosphatidylserine exposure accelerating thrombin-forming processes has been proposed as a mechanism for thrombosis in sickle cell disease and beta-thalassemia and may play a similar role in hereditary hydrocytosis... - Regulation of erythrocyte membrane protein gene expressionPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
Curr Opin Hematol 10:115-22. 2003..These include disease pathogenesis, membrane assembly, hematopoiesis, gene regulation, and direction of other erythroid-specific genes in transgenic mouse and gene therapy applications... - The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoterP G Gallagher
Departments of Pediatrics, Internal Medicine and Genetics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Blood 96:1136-43. 2000..The ankyrin gene erythroid promoter was transactivated in heterologous cells by forced expression of GATA-1 and to a lesser degree BKLF... - Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding sitePatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Lab Invest 84:229-34. 2004..Molecular modeling demonstrated that replacement of a hydrophobic isoleucine with a hydrophilic threonine disrupts highly conserved hydrophobic interactions in the interior of the spectrin triple helix critical for spectrin function... - Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin geneEllice Y Wong
Department of Pediatrics and Internal Medicine, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520 8021, USA
J Biol Chem 279:55024-33. 2004..This is an excellent candidate region for mutations associated with decreased alpha-spectrin gene expression in patients with hereditary spherocytosis and hereditary pyropoikilocytosis... - A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindredDaniel B Costa
Department of Medicine, Yale University School of Medicine, New Haven, CT, USA
Blood 106:4367-9. 2005..Following gene transfer into tissue culture cells, there was complete absence of normally spliced alpha-spectrin gene transcripts derived from a minigene containing the IVS 22 +5 mutation... - Ankyrin-linked hereditary spherocytosis in an African-American kindredJose Sangerman
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
Am J Hematol 83:789-94. 2008..This is the first report describing ankyrin-linked HS in an African-American kindred... - Chromatin architecture and transcription factor binding regulate expression of erythrocyte membrane protein genesLaurie A Steiner
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, P O Box 208064, New Haven, CT 06520 8064, USA
Mol Cell Biol 29:5399-412. 2009.... - A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosisE Jennifer Edelman
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Blood 109:5491-3. 2007.... - Hereditary elliptocytosis: spectrin and protein 4.1RPatrick G Gallagher
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520-8064, USA
Semin Hematol 41:142-64. 2004..quot; The majority of HE patients are asymptomatic, but some may experience hemolytic anemia, splenomegaly, and intermittent jaundice... - Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter elementGuo Ping Zhou
Department of Pediatrics, Yale University School of Medicine, PO Box 208064, 333 Cedar St, New Haven, CT 06520 8064, USA
Blood 103:4302-9. 2004..In vivo studies using chromatin immunoprecipitation assays with antihistone H3 and antihistone H4 antibodies demonstrated hyperacetylation of this core promoter region... - Aplastic crisis revealing the diagnosis of Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)] in a Hispanic kindred: case report and reviewLaurie A Steiner
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
Hemoglobin 31:409-16. 2007..Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients... - Case-control analysis of endemic Serratia marcescens bacteremia in a neonatal intensive care unitMatthew J Bizzarro
Divisions of Perinatal Medicine, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
Arch Dis Child Fetal Neonatal Ed 92:F120-6. 2007..Serratia marcescens is an opportunistic gram-negative rod which typically infects compromised hosts... - Matched case-control analysis of polymicrobial bloodstream infection in a neonatal intensive care unitMatthew J Bizzarro
Division of Perinatal Medicine, Yale University School of Medicine, New Haven, Connecticut 06520 8064, USA
Infect Control Hosp Epidemiol 29:914-20. 2008..To compare and contrast the epidemiology of polymicrobial and monomicrobial bloodstream infections (BSIs) in newborn intensive care unit (NICU) patients... - Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer siteMassimiliano Gaetani
The Wistar Institute, Philadelphia, PA 19104, USA
Blood 111:5712-20. 2008..All alpha0 HE/HPP mutations studied here appear to exert their destabilizing effects through molecular recognition rather than structural mechanisms... - Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and functionCamila O Dos Santos
The Children s Hospital of Philadelphia, Division of Hematology, Philadelphia, Pennsylvania 19104, USA
Am J Hematol 83:103-8. 2008.... - An 11-amino acid beta-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytesMarko Stefanovic
Department of Chemistry, Purdue University, 1393 BRWN Building, West Lafayette, IN 47907, USA
Proc Natl Acad Sci U S A 104:13972-7. 2007..Our data indicate that as yet uncharacterized interactions between other membrane proteins must significantly contribute to linkage of the spectrin-actin-based membrane cytoskeleton to the plasma membrane... - Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid Kruppel-like factor-deficient miceAndre M Pilon
Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4442, USA
Mol Cell Biol 26:4368-77. 2006..These results support the hypothesis that EKLF acts as a transcription factor and a chromatin modulator for the AHSP and beta-globin genes and indicate that EKLF may play similar roles for other erythroid genes... - Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfoldingColin P Johnson
Molecular and Cell Biophysics Laboratory, University of Pennsylvania, 3699 Market Street, Philadelphia, PA 19104, USA
Blood 109:3538-43. 2007..The results suggest a molecular mechanism for the high frequency of disease caused by proline mutations in spectrin linkers... - Major erythrocyte membrane protein genes in EKLF-deficient miceDouglas G Nilson
Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Exp Hematol 34:705-12. 2006..The objectives of this study were to rescue EKLF-deficient embryos with mice expressing gamma-globin from beta-spectrin or ankyrin promoters and to characterize expression of the major erythrocyte membrane genes in EKLF-deficient cells... - Variegated expression from the murine band 3 (AE1) promoter in transgenic mice is associated with mRNA transcript initiation at upstream start sites and can be suppressed by the addition of the chicken beta-globin 5' HS4 insulator elementTiffany F Frazar
Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
Mol Cell Biol 23:4753-63. 2003..We conclude that the chicken beta-globin 5'HS4 element is necessary for full function of the AE1 promoter and that position effect variegation is associated with RNA transcription from the upstream start sites... - Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteinsLaurent Boulanger
INSERM U409, Association Claude Bernard, Universite Paris 7, Faculte X Bichat, 75870 Paris Cedex 18, France
J Biol Chem 277:41563-70. 2002..No expression of the reporter gene was detected in nonerythroid tissues. We conclude that this alpha-spectrin gene promoter contains the sequences necessary for low level expression in erythroid progenitor cells... - Novel role for EKLF in megakaryocyte lineage commitmentPilar Frontelo
Mount Sinai School of Medicine, New York, NY 10029, USA
Blood 110:3871-80. 2007..Expression profiling and molecular analyses support these observations and suggest that megakaryocytic inhibition is achieved, at least in part, by EKLF repression of Fli-1 message levels... - Multiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cellsScott C Crable
Comprehensive Sickle Cell Center, Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
Exp Hematol 33:624-31. 2005..Splicing variants arising from the KCC1 and 3 genes are also evident. Structure/function studies of mouse KCC1 suggest that these natural variants could profoundly affect overall cotransporter activity in the red cell... - Hereditary spherocytosisSilverio Perrotta
Department of Paediatrics, Second University of Naples, Naples, Italy
Lancet 372:1411-26. 2008..Common complications are cholelithiasis, haemolytic episodes, and aplastic crises. Splenectomy is curative but should be undertaken only after careful assessment of the risks and benefits... - Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosisWhitney Tolpinrud
Haematologica 93:1752-4. 2008 - Hereditary pyropoikilocytosis and the spectrin St. Claude alleleS Mootien
Br J Haematol 124:251-2. 2004
Research Grants
- Molecular Biology of Erythrocyte AnkyrinPatrick G Gallagher; Fiscal Year: 2010..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
- RESEARCH IN PERINATAL MEDICINEPatrick Gallagher; Fiscal Year: 2007..It has been recognized that there is a national shortage of suitably trained physician-scientists. The ongoing objective of this program is to train members of the next generation of perinatal investigators. ..
- Molecular Biology of Erythrocyte AnkyrinPatrick Gallagher; Fiscal Year: 2007..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
- MOLECULAR BIOLOGY OF HUMAN ERYTHROCYTE ALPHA-SPECTRINPatrick Gallagher; Fiscal Year: 2007..These studies will provide important insights into the role of spectrin in normal and disease states. ..
- Molecular Biology of Erythrocyte AnkyrinPatrick Gallagher; Fiscal Year: 2006..These studies will provide important insights into the role of ankyrin in normal and disease states. ..
- Molecular Biology of Erythrocyte AnkyrinPatrick Gallagher; Fiscal Year: 2009..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
- Molecular Biology of Erythrocyte AnkyrinPatrick G Gallagher; Fiscal Year: 2010..These studies may provide important information to be used for diagnosis and treatment of patients with this disorder. ..
- Molecular Biology of Human Erythrocyte Alpha SpectrinPatrick G Gallagher; Fiscal Year: 2010..Some people require surgery or blood transfusions to treat the anemia. This application studies the what, why, and how of abnormalities of the lining of the red blood cell that cause the anemia. ..
- MOLECULAR BIOLOGY OF HUMAN ERYTHROCYTE ALPHA-SPECTRINPatrick Gallagher; Fiscal Year: 2003..These studies will provide important insights into our studies of the role of a-spectrin in normal and disease states. ..