GATA1


GATA1

GATA1 is an important transcription factor involved in cell growth and cancer.

PBB_Summary
section_title =
summary_text = This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [cite web | title = Entrez Gene: GATA1 GATA binding protein 1 (globin transcription factor 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2623| accessdate = ]

Function

It is essential for erythroid (red blood cell) and megakaryocytic (platelet producing cell) development and mice without GATA1 die as embryos. It helps transcribe the α-spectrin structural protein which is critical for the shape of red blood cells.

It has been found to enhance the transcription rates by up to 100 times in humans [cite journal
author=Wong EY
coauthors=Lin J; Forget BG; Bodine DM; Gallagher PG
title=Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin gene.
journal=J Biol Chem.
year=2004
month=Dec
volume=279
issue=53
pages=55024–33
pmid=15456760
doi=10.1074/jbc.M408886200
url=http://www.jbc.org/cgi/reprint/279/53/55024.pdf
] .

tructure

The molecule contains three domains the C-finger the N-finger and the Activation Domain. The C-finger, named for being near the C-terminal, has a Zinc finger DNA binding domain. The N-finger, named for being near the N-terminal also binds DNA and a cofactor named FOG-1 (friend of GATA). The Activation Domain is responsible for GATA1's strong transcriptional activation. The gene for GATA1 is on the X-chromosome.

Disease linkage

In 2002, Wechsler J et al [cite journal
author=Wechsler J et al
title=Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
journal=Nat Genet.
year=2002
month=Sep
volume=32
issue-1
pages=148–52
pmid=12172547
doi=10.1038/ng955
] demonstrated mutations in exon 2 of the GATA1 gene present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL). [cite journal
author=Rainis L et al.
title=Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21
journal=Blood
year=2003
month=Aug
volume=102
issue=3
pages=981–6
pmid=12649131
doi=10.1182/blood-2002-11-3599
] . While AMKL is typically associated with the 1;22 translocation and expression of a mutant fusion protein, the genetic alterations that promote individuals with DS-AMKL are related to the GATA1 mutations, and the formation of a truncated transcription factor (GATA1s). In 2003, Greene et al showed the same mutations in exon 2 of GATA1 present in almost all Down Syndrome-associated transient myeloproliferative disorder (TMD) or transient leukemia (TL), a precursor condition that evolves into AMKL in 30% of patients, that as many as 10% of Down Syndrome children may develop. Pine SR et al demonstrated an incidence for the GATA1 mutation in about 4% of Down Syndrome patients tested, but less than 10% of those with the mutation developed AMKL. Shimada et al. showed in 2004 that the mutation is present in the fetus, suggesting an early role in leukemogenesis. In addition to screening for TL, a GATA1 mutation at birth might serve as a bio-marker for an increased risk of DS-related AMKL.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ohneda K, Yamamoto M |title=Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage. |journal=Acta Haematol. |volume=108 |issue= 4 |pages= 237–45 |year= 2003 |pmid= 12432220 |doi=
*cite journal | author=Gurbuxani S, Vyas P, Crispino JD |title=Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome. |journal=Blood |volume=103 |issue= 2 |pages= 399–406 |year= 2004 |pmid= 14512321 |doi= 10.1182/blood-2003-05-1556
*cite journal | author=Muntean AG, Ge Y, Taub JW, Crispino JD |title=Transcription factor GATA-1 and Down syndrome leukemogenesis. |journal=Leuk. Lymphoma |volume=47 |issue= 6 |pages= 986–97 |year= 2007 |pmid= 16840187 |doi= 10.1080/10428190500485810
*cite journal | author=Caiulo A, Nicolis S, Bianchi P, "et al." |title=Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23. |journal=Hum. Genet. |volume=86 |issue= 4 |pages= 388–90 |year= 1991 |pmid= 1999341 |doi=
*cite journal | author=Trainor CD, Evans T, Felsenfeld G, Boguski MS |title=Structure and evolution of a human erythroid transcription factor. |journal=Nature |volume=343 |issue= 6253 |pages= 92–6 |year= 1990 |pmid= 2104960 |doi= 10.1038/343092a0
*cite journal | author=Zon LI, Tsai SF, Burgess S, "et al." |title=The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 2 |pages= 668–72 |year= 1990 |pmid= 2300555 |doi=
*cite journal | author=Martin DI, Tsai SF, Orkin SH |title=Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. |journal=Nature |volume=338 |issue= 6214 |pages= 435–8 |year= 1989 |pmid= 2467208 |doi= 10.1038/338435a0
*cite journal | author=Osada H, Grutz G, Axelson H, "et al." |title=Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 21 |pages= 9585–9 |year= 1995 |pmid= 7568177 |doi=
*cite journal | author=Mouthon MA, Bernard O, Mitjavila MT, "et al." |title=Expression of tal-1 and GATA-binding proteins during human hematopoiesis. |journal=Blood |volume=81 |issue= 3 |pages= 647–55 |year= 1993 |pmid= 7678994 |doi=
*cite journal | author=Zon LI, Yamaguchi Y, Yee K, "et al." |title=Expression of mRNA for the GATA-binding proteins in human eosinophils and basophils: potential role in gene transcription. |journal=Blood |volume=81 |issue= 12 |pages= 3234–41 |year= 1993 |pmid= 8507862 |doi=
*cite journal | author=Tsang AP, Visvader JE, Turner CA, "et al." |title=FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. |journal=Cell |volume=90 |issue= 1 |pages= 109–19 |year= 1997 |pmid= 9230307 |doi=
*cite journal | author=Rekhtman N, Radparvar F, Evans T, Skoultchi AI |title=Direct interaction of hematopoietic transcription factors PU.1 and GATA-1: functional antagonism in erythroid cells. |journal=Genes Dev. |volume=13 |issue= 11 |pages= 1398–411 |year= 1999 |pmid= 10364157 |doi=
*cite journal | author=Holmes M, Turner J, Fox A, "et al." |title=hFOG-2, a novel zinc finger protein, binds the co-repressor mCtBP2 and modulates GATA-mediated activation. |journal=J. Biol. Chem. |volume=274 |issue= 33 |pages= 23491–8 |year= 1999 |pmid= 10438528 |doi=
*cite journal | author=Nichols KE, Crispino JD, Poncz M, "et al." |title=Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. |journal=Nat. Genet. |volume=24 |issue= 3 |pages= 266–70 |year= 2000 |pmid= 10700180 |doi= 10.1038/73480
*cite journal | author=Freson K, Devriendt K, Matthijs G, "et al." |title=Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. |journal=Blood |volume=98 |issue= 1 |pages= 85–92 |year= 2001 |pmid= 11418466 |doi=
*cite journal | author=Mehaffey MG, Newton AL, Gandhi MJ, "et al." |title=X-linked thrombocytopenia caused by a novel mutation of GATA-1. |journal=Blood |volume=98 |issue= 9 |pages= 2681–8 |year= 2001 |pmid= 11675338 |doi=
*cite journal | author=Crawford SE, Qi C, Misra P, "et al." |title=Defects of the heart, eye, and megakaryocytes in peroxisome proliferator activator receptor-binding protein (PBP) null embryos implicate GATA family of transcription factors. |journal=J. Biol. Chem. |volume=277 |issue= 5 |pages= 3585–92 |year= 2002 |pmid= 11724781 |doi= 10.1074/jbc.M107995200
*cite journal | author=Freson K, Matthijs G, Thys C, "et al." |title=Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. |journal=Hum. Mol. Genet. |volume=11 |issue= 2 |pages= 147–52 |year= 2002 |pmid= 11809723 |doi=
*cite journal | author=Molete JM, Petrykowska H, Sigg M, "et al." |title=Functional and binding studies of HS3.2 of the beta-globin locus control region. |journal=Gene |volume=283 |issue= 1-2 |pages= 185–97 |year= 2002 |pmid= 11867225 |doi=
*cite journal | author=Hirasawa R, Shimizu R, Takahashi S, "et al." |title=Essential and instructive roles of GATA factors in eosinophil development. |journal=J. Exp. Med. |volume=195 |issue= 11 |pages= 1379–86 |year= 2002 |pmid= 12045236 |doi=

External links

* [http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA1 Genecards]
* [http://www.dsi.univ-paris5.fr/genatlas/fiche.php?symbol=GATA1 Geneatlas]
* [http://www.infobiogen.fr/services/chromcancer/Genes/GATA1ID40689chXp11.html Infobiogen]
* [http://www.nextbio.com/b/home/home.nb?q=GATA1&dfsitype= Nextbio]

PBB_Controls
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require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


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