Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transcription factor GATA-6

The GATA6 gene encodes the Transcription factor GATA-6 that plays an important role in organogenesis. Mutations cause autosomal dominant congenital heart disease and diabetes.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pancreatic agenesis and congenital heart defects
GATA6

References:

1.

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2.

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38.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

Shackelford DA et. al. (1981) Human B-cell alloantigens DC1, MT1, and LB12 are identical to each other but distinct from the HLA-DR antigen.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

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60.

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61.

Nabozny GH et. al. (1996) HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis.

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62.

Velho G et. al. (1996) Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.

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63.

't Hart LM et. al. (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.

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64.

Salen G et. al. (1996) Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome.

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65.

Vialettes BH et. al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

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66.

Kikawa Y et. al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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67.

Bradley DS et. al. (1997) HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis.

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68.

Kameoka K et. al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.

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69.

Tillmann H et. al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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70.

Patel SB et. al. (1998) Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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71.

Martin Negrier ML et. al. (1998) Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness.

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72.

Ferber KM et. al. (1999) Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes.

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73.

Chinnery PF et. al. (1999) Nonrandom tissue distribution of mutant mtDNA.

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74.

Wen L et. al. (2000) In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes.

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75.

Lambert NC et. al. (2000) Cutting edge: persistent fetal microchimerism in T lymphocytes is associated with HLA-DQA1*0501: implications in autoimmunity.

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76.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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77.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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78.

Savoia A et. al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

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79.

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80.

None (2001) Mitochondrial DNA mutations and diabetes: another step toward individualized medicine.

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81.

Lu K et. al. (2001) High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

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82.

Lee MH et. al. (2001) Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.

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83.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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84.

Cucca F et. al. (2001) A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.

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85.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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86.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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87.

Matsuura T et. al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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88.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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89.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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90.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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91.

None (2003) Images in clinical medicine. Phytosterolemia and xanthomatosis.

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92.

Kim CY et. al. (2004) Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease.

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93.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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94.

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95.

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96.

Stewart GW et. al. (2006) Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.

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97.

Buch S et. al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

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98.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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99.

Stewart GW et. al. (2008) Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia.

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100.

Hovhannisyan Z et. al. (2008) The role of HLA-DQ8 beta57 polymorphism in the anti-gluten T-cell response in coeliac disease.

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101.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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102.

Stanescu HC et. al. (2011) Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

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103.

Ogun O et. al. (2012) Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.

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104.

Chong JX et. al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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105.

Li B et. al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

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106.

Yorifuji T et. al. (1994) Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

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107.

Krapp A et. al. (1996) The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein.

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108.

Suzuki E et. al. (1996) The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.

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109.

Morrisey EE et. al. (1998) GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.

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110.

Krapp A et. al. (1998) The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas.

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111.

Hoveyda N et. al. (1999) Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.

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112.

Adell T et. al. (2000) Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells.

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113.

Laitinen MP et. al. (2000) Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.

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114.

Rose SD et. al. (2001) The role of PTF1-P48 in pancreatic acinar gene expression.

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115.

Kawaguchi Y et. al. (2002) The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors.

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116.

Ketola I et. al. (2003) Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.

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117.

Sellick GS et. al. (2003) A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.

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118.

Sellick GS et. al. (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis.

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119.

Ho CK et. al. (2005) Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.

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120.

Lepore JJ et. al. (2006) GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.

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121.

Xin M et. al. (2006) A threshold of GATA4 and GATA6 expression is required for cardiovascular development.

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122.

Kamnasaran D et. al. (2007) GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model.

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123.

Masui T et. al. (2007) Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex.

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124.

Kodo K et. al. (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

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125.

Maitra M et. al. (2010) Identification of GATA6 sequence variants in patients with congenital heart defects.

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126.

Lin X et. al. (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

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127.

Al-Shammari M et. al. (2011) A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

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128.

Yorifuji T et. al. (2012) Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.

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129.

Weedon MN et. al. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

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130.

Yu L et. al. (2014) Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

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131.

Rosas M et. al. (2014) The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.

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Update: Sept. 26, 2018