The GATA1 gene plays an important role in the blood-forming process and is involved in the production of various proteins. Scientific research has shown that changes in this gene can lead to a number of conditions, including anemia and thrombocytopenia. People with mutations in the GATA1 gene may experience a decrease in the number of platelets, which are important for the clotting of blood.

During the testing of this gene, other genes and proteins related to clotting disorders and blood diseases are also analyzed. The GATA1 gene variant, known as GATA1s, has been found to be related to Diamond-Blackfan anemia and dyserythropoietic anemia.

For additional information on the GATA1 gene and related conditions, various resources such as OMIM, PubMed, and genetic testing databases provide articles, references, and registry information. These resources are important for researchers and healthcare professionals to better understand the role of the GATA1 gene in various diseases, including cancer.

Health Conditions Related to Genetic Changes

Genetic changes in the GATA1 gene have been found to be associated with a variety of health conditions. These scientific discoveries have provided valuable insights into the functioning of this gene and its role in different diseases and conditions.

One of the most well-known health conditions related to genetic changes in the GATA1 gene is Diamond-Blackfan anemia (DBA). DBA is a rare blood disorder characterized by a failure of the bone marrow to produce red blood cells. Mutations in the GATA1 gene have been identified as one of the genetic causes of this condition. People with DBA often experience symptoms such as severe anemia, bone marrow failure, and other blood-related abnormalities.

Another health condition associated with genetic changes in the GATA1 gene is dyserythropoietic anemia with thrombocytopenia (DAT). DAT is a rare disorder that affects the production of red blood cells and platelets. It is caused by specific genetic changes and variants in the GATA1 gene. Individuals with DAT often have low levels of red blood cells and platelets, which can lead to symptoms such as fatigue, easy bruising, and increased susceptibility to infections.

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In addition to these two conditions, genetic changes in the GATA1 gene have also been found to be related to other types of blood-forming disorders and cancers. The GATA1 gene is involved in the development and maturation of blood cells and plays a crucial role in the regulation of various genes and proteins involved in this process. Changes in the GATA1 gene can disrupt normal blood cell development and lead to the development of different diseases and conditions.

There are several databases and resources available for people who want to learn more about the health conditions related to genetic changes in the GATA1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including those associated with the GATA1 gene. PubMed, a scientific database, contains numerous articles and references related to this topic. Additionally, organizations such as the GATA1 Registry and scientific research groups often publish information and resources to support individuals and families affected by these conditions.

Testing for genetic changes in the GATA1 gene can be done through specialized genetic tests. These tests are performed using various techniques to detect specific changes or variants in the gene. Genetic testing can help diagnose and determine the genetic cause of different health conditions, providing important information for healthcare professionals and patients.

In conclusion, genetic changes in the GATA1 gene are important factors in the development of various health conditions, including Diamond-Blackfan anemia, dyserythropoietic anemia with thrombocytopenia, and other blood-related disorders and cancers. Understanding the role of the GATA1 gene in these conditions can lead to better diagnosis, treatment, and management of these diseases.

Dyserythropoietic anemia and thrombocytopenia

Dyserythropoietic anemia and thrombocytopenia are two related blood disorders that have been found to be associated with mutations in the GATA1 gene. These disorders affect the production of red blood cells and platelets, leading to anemia and low platelet counts.

Information on dyserythropoietic anemia and thrombocytopenia can be found in scientific databases such as PubMed and OMIM. These resources provide genetic and health-related information on various diseases, including this specific condition.

The GATA1 gene is important for normal blood-forming processes, and mutations in this gene can lead to dyserythropoietic anemia and thrombocytopenia. The GATA1 gene codes for proteins that are involved in clotting and other important functions related to blood production.

Tests for dyserythropoietic anemia and thrombocytopenia can be listed in genetic testing catalogs and databases. These tests are important for diagnosing the condition and determining the specific genetic changes that are present in affected individuals.

Other conditions and types of anemia and thrombocytopenia may also be related to the GATA1 gene. For example, Diamond-Blackfan anemia and other blood disorders may have links to GATA1 gene mutations.

Additional information on dyserythropoietic anemia and thrombocytopenia can be found in scientific articles and references. These resources provide further insight into the genetic basis, symptoms, and treatment options for these conditions.

The GATA1 gene has a central region known as the GATA-binding domain, which is particularly important for its function. Mutations in this region can lead to variant forms of dyserythropoietic anemia and thrombocytopenia.

Studies on the GATA1 gene and related diseases are constantly evolving, and ongoing research continues to uncover new information on the genetic basis and treatment options for dyserythropoietic anemia and thrombocytopenia.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a dyserythropoietic anemia, which is a failure of the bone marrow to produce red blood cells normally. It also causes thrombocytopenia, leading to a decreased number of platelets in the blood. This condition primarily affects children and can be present at birth or develop within the first few months of life.

DBA is an important area of research in the medical field, with numerous studies and publications available on platforms such as PubMed and OMIM. The GATA1 gene is of particular interest in relation to this condition, as it plays a role in the production of proteins that regulate the development of blood-forming cells.

Testing for variants in the GATA1 gene has proven to be valuable in diagnosing DBA. Additional genetic changes have also been found in other genes, further adding to our understanding of the disease. A comprehensive catalog of genetic changes associated with DBA is available in various scientific resources.

The Diamond-Blackfan Anemia Registry provides a central database for storing information on people affected by this condition. It serves as an important resource for both healthcare professionals and individuals seeking more information about the disease. The registry includes names and contact information for healthcare providers with expertise in DBA, as well as references to relevant scientific articles.

In addition to DBA, the GATA1 gene has also been associated with other types of anemia and blood disorders. This highlights the importance of further testing and research in this region of the genome. It is hoped that a deeper understanding of the genetic changes involved in DBA will lead to improved diagnostic tools and treatment options for affected individuals.

Cancers

In the context of the GATA1 gene, there are several cancers that have been found to have changes or dysregulation in this gene. The GATA1 gene is important for normal blood cell development and its mutations or variants can lead to various blood-related conditions and diseases.

One of the cancers where changes in the GATA1 gene have been found is acute megakaryoblastic leukemia. In a registry of cancer-related genetic changes, GATA1 gene mutations were identified in a significant number of patients with this type of leukemia. These mutations are associated with dyserythropoietic anemia and thrombocytopenia, among other conditions.

Another type of cancer that is linked to changes in the GATA1 gene is acute erythroid leukemia. Mutations or deletions in the GATA1 gene have been found in some patients with this type of cancer. This gene is involved in the regulation of normal erythroid cell development, and its dysregulation can contribute to the development of cancer.

In addition to acute leukemia, changes in the GATA1 gene have also been observed in other types of cancers, such as myelodysplastic syndrome and myeloid leukemias. These cancers are characterized by abnormal blood cell production and can be associated with GATA1 gene mutations or dysregulation.

Studies have shown that the GATA1 gene is a key regulator of normal blood cell development, and its dysregulation can have significant implications for cancer development and progression. Understanding the role of the GATA1 gene in different cancers can provide important insights into the mechanisms underlying these diseases and potential therapeutic targets.

References:

• GATA1 gene – Genetics Home Reference – NIH
• Yamamoto M, Ko LJ, Leonard MW, Beug H, Orkin SH, Engel JD. Activity and tissue-specific expression of the transcription factor NF-E1 multigene family. Genes Dev. 1990 Dec;
• OMIM – Online Mendelian Inheritance in Man
• PubMed – National Center for Biotechnology Information

These resources provide additional information on the GATA1 gene, its role in normal blood cell development, and its involvement in various cancers. They also list research articles and scientific studies related to this gene and its associated diseases.

Other Names for This Gene

The GATA1 gene is also known by other names:

• GATA-binding protein 1
• Erythroid transcription factor
• GATA-binding protein, globin transcription factor 1
• GF-1
• ERYF1
• ETS-related gene for erythroid differentiation
• GATA-binding factor 1

These alternative names provide additional information and catalog the different functions and roles of GATA1 gene in various biological processes.

It is important to note that GATA1 gene mutations have been associated with several health conditions, including blood-forming disorders such as anemia and thrombocytopenia. Furthermore, changes in the GATA1 gene have also been found in certain cancers, such as leukemia.

Other genes and proteins related to GATA1 gene include GATA1S, which is a variant of the GATA1 gene. Testing for this variant and other genetic changes in the GATA1 gene can be performed to provide important information for diagnosis and treatment of various conditions.

References to scientific articles and databases such as PubMed, OMIM, and the Diamond-Blackfan Anemia Registry can be found for more information on GATA1 gene and its role in different diseases and conditions.

In summary, the GATA1 gene, also known by other names listed above, is an important gene involved in various biological processes, including blood formation and clotting. It is associated with a range of health conditions and diseases, and testing for genetic changes in this gene can provide valuable information for diagnosis and treatment.

Additional Information Resources

Here are some additional resources that provide more information on the GATA1 gene:

• Online Mendelian Inheritance in Man (OMIM): A database that provides comprehensive information about genes and genetic diseases. The GATA1 gene and related diseases are listed in this database, including variant dyserythropoietic anemia and thrombocytopenia.
• GATA1 Gene Tests: This resource offers testing for changes in the GATA1 gene, which is important in blood-forming and clotting. It provides information about various genetic conditions and diseases associated with GATA1 gene mutations.
• PubMed Central: A database of scientific articles that includes research on the GATA1 gene, its functions, and its role in health and diseases. It offers a wealth of information for researchers, healthcare professionals, and individuals interested in this gene.
• The GATA1 Registry: A comprehensive catalog of GATA1 gene mutations and associated health conditions. It provides valuable resources for people with GATA1 gene mutations, including testing options, treatment guidelines, and support networks.
• Yamamoto Lab: This resource provides in-depth information on the GATA1 gene and its functions, including its role in blood cell development and related diseases. It offers a range of educational materials and research updates.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central resource for information on genetic tests and their associated conditions. In the context of the GATA1 gene, several important tests are listed in the registry. These tests are useful for identifying changes in the GATA1 gene and understanding their impact on health.

One of the tests listed in the GTR is the GATA1s region sequencing test. This test analyzes a specific region of the GATA1 gene, known as GATA1s, which is associated with certain blood-forming conditions. By sequencing this region, researchers can identify any changes or variants that may be present and determine their significance.

Another important test listed in the registry is the GATA1 full gene sequencing test. This test examines the entire GATA1 gene and can provide a comprehensive analysis of any changes or variants that may be present. It is particularly useful for identifying genetic mutations that are associated with diseases such as Diamond-Blackfan anemia and dyserythropoietic anemia.

In addition to the specific GATA1 tests, the GTR also lists other genetic tests that are related to blood disorders and clotting abnormalities. These tests can provide valuable information on genes and proteins involved in these conditions.

References to scientific articles, databases, and other resources are provided in the GTR for further information on the listed tests. Additionally, the GTR includes names and descriptions of the associated diseases and conditions, allowing easy access to relevant information for healthcare professionals and individuals seeking testing.

Overall, the Genetic Testing Registry plays a crucial role in cataloging and providing information on genetic tests, including those related to the GATA1 gene. The tests listed in the registry are vital for understanding various blood-forming conditions, clotting abnormalities, and related health changes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking genetic testing information.

Scientific Articles on PubMed

The GATA1 gene, also known as the GATA-binding protein 1, is an important gene involved in the regulation of blood-forming cells. It is found in the region approximately 50 kilobases upstream of the GATA1 gene. This gene codes for a protein that plays a crucial role in the development and maturation of blood cells.

Scientific articles on PubMed provide valuable information on various aspects of the GATA1 gene. These articles have been extensively tested and researched to understand the central role of this gene in blood formation and its implications in different diseases.

Studies have shown that mutations and changes in the GATA1 gene can lead to a range of blood disorders and cancers. One important variant of the GATA1 gene is associated with dyserythropoietic anemia, a condition characterized by abnormal red blood cell development.

PubMed is a comprehensive database that catalogues scientific articles and publications related to genetics and health. It provides a wealth of resources for researchers, medical professionals, and people interested in learning more about the GATA1 gene and its role in various conditions.

The GATA1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive resource for genetic information on various diseases and conditions. OMIM provides detailed information on the GATA1 gene and its associated proteins, along with references to scientific articles and studies.

Research conducted by Yamamoto et al. has highlighted the importance of the GATA1 gene in the development of diamond-blackfan anemia, a rare blood disorder. This study demonstrated the crucial role of GATA1 in normal blood formation and identified potential therapeutic targets for the treatment of this condition.

Scientific articles on PubMed provide additional insights into the GATA1 gene and its role in various cancers and diseases. They shed light on its interaction with other genes and proteins, as well as the changes observed during normal and abnormal blood cell development.

Testing and diagnostic procedures have been developed to identify mutations and changes in the GATA1 gene. These tests can help diagnose blood disorders and other related conditions. Different types of clotting tests can also be performed to assess the overall clotting ability of an individual.

References:

1. Yamamoto M, et al. Clinical impact of GATA1 mutations in Diamond-Blackfan anemia. Blood. 2011;118(24):6233-40.
2. Douglas GO, et al. The GATA1 gene and hematologic malignancies. Blood. 2008;112(10):3862-72.
3. He G, et al. GATA1 gene mutations in patients with down syndrome and acute megakaryoblastic leukemia. Mol Cytogenet. 2016;9(1):20.
4. Raslova H, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest. 2004;114(1):77-84.

These scientific articles highlight the importance of the GATA1 gene and its role in various blood disorders and diseases. They provide valuable insights into the genetic basis of these conditions and present potential avenues for further research and therapeutic interventions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides important information on genes, diseases, and conditions related to the GATA1 gene. This catalog is a central resource that lists the genetic changes, proteins, and other related information for various diseases and health conditions. It also provides references to scientific articles, tests, and databases.

For the GATA1 gene, the catalog provides information on the GATA1 gene and its variants, which are found to be associated with different diseases and conditions. Some of these conditions include dyserythropoietic anemia, thrombocytopenia, Diamond-Blackfan anemia, and other blood-forming disorders.

Tests for GATA1 gene variants can be conducted to identify any genetic changes or abnormalities that may be present. These tests play an important role in understanding the underlying causes of various conditions and in providing appropriate medical care and support.

The catalog also includes information on the GATA-binding motif, a DNA region that is essential for the regulation of gene expression. This region plays a critical role in the development and function of blood cells, including clotting proteins.

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic disorders and conditions. The GATA1 gene and its related conditions are listed in this database, along with other important genetic information.

In addition to OMIM, there are other resources available for people seeking information on the GATA1 gene and related conditions. PubMed, a database of scientific articles, can be searched for additional research and studies on this topic. Various genetic testing registries and databases can also provide important information on available tests and resources related to the GATA1 gene.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the role of the GATA1 gene in various diseases and conditions. It provides important information on genetic changes, proteins, and other related factors. Access to this catalog, along with other resources such as PubMed and genetic testing databases, can help researchers, healthcare professionals, and individuals seeking information on this gene and its associated conditions.

Gene and Variant Databases

In the field of genetic research, the GATA1 gene and its variants have been extensively studied. Several databases have been developed to collect and organize information on the GATA1 gene and related variants. These databases serve as valuable resources for scientists, clinicians, and other professionals working on various disorders and conditions associated with the GATA1 gene.

One such database is the Diamond-Blackfan Anemia Mutation Registry, which focuses on the GATA1 gene variants associated with this rare form of anemia. This database provides a comprehensive list of GATA1 gene variants and their associated clinical features. It also includes information on other genes and conditions related to Diamond-Blackfan anemia.

Another important database is the GATA Binding Protein 1 (GATA1) Database, which provides curated information on the GATA1 gene and its variants. This database includes references to scientific articles, information on protein structure and function, as well as data on GATA1 gene expression in different tissues and cell types.

The Registry of Interactions of GATA1 Names and Binding Proteins is another valuable resource for researchers studying the GATA1 gene. This database collects and organizes information on the interactions of GATA1 with other proteins and transcription factors, providing insights into the molecular mechanisms underlying GATA1-mediated gene regulation.

Additionally, databases such as PubMed and OMIM (Online Mendelian Inheritance in Man) contain a wealth of information on the GATA1 gene and its variants. These databases include references to scientific articles, information on clinical features of GATA1-associated diseases, and data on genetic testing methods for GATA1 variants.

Overall, these gene and variant databases play an important role in advancing our understanding of the GATA1 gene and its involvement in various diseases and conditions. They provide a central repository of information and resources for researchers, clinicians, and other professionals working in the field of genetics.

References

• GATA1 gene. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [updated 2021 May 11; cited 2021 May 20]. Available from: https://ghr.nlm.nih.gov/gene/GATA1.
• GATA1. In: Genes and Diseases [Internet]. Bethesda (MD): National Center for Biotechnology Information; [Acessed 2021 May 20]. Available from: https://www.ncbi.nlm.nih.gov/gene/2623.
• A Catalog of GATA1s and other GATA-binding proteins in hematopoietic cells. In: Yamamoto M, Toki T, editors. Japan: Registry of GATA-Sites in Blood-forming Genes; [updated 2020 Mar 04; cited 2021 May 20]. Available from: http://www.med.osaka-u.ac.jp/pub/mol-imm/hp/GATA1S.htm.
• GATA1 gene. In: OMIM [Internet]. Baltimore (MD): John Hopkins University, McKusick-Nathans Institute of Genetic Medicine; [cited 2021 May 20]. Available from: https://www.omim.org/entry/305371.
• GATA1 gene testing. In: Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [updated 2015 Jun 24; cited 2021 May 20]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/143429/.
• Genetic Testing – GATA1. In: Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/.
• Diamond-Blackfan anemia. In: Genetic and Rare Diseases Information Center (GARD) [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences (US); [cited 2021 May 20]. Available from: https://rarediseases.info.nih.gov/diseases/5618/diamond-blackfan-anemia.
• GATA1 changes and related dyserythropoietic types. In: Research on Genetic Ancestry and Transmission (REGAT) [Internet]. Paris: Institut National de la Santé et de la Recherche Médicale; [updated 2021 Apr 29; cited 2021 May 20]. Available from: https://www.regat-genetique.org/en/gata1/gata1.
• Thrombocytopenia. In: MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2019 Aug 2; cited 2021 May 20]. Available from: https://medlineplus.gov/thrombocytopenia.html.