The PML gene, also known as the promyelocytic leukemia gene, is a gene that encodes for a protein involved in the differentiation and apoptosis of cells. It is cataloged in various genetic databases and resources, including OMIM, which is a comprehensive catalog of human genes and genetic disorders.
The PML gene has been associated with certain bone marrow diseases, including acute promyelocytic leukemia (APL), a subtype of leukemia characterized by abnormal changes in the differentiation and proliferation of promyelocytes. Mutations in the PML gene can lead to the formation of a fusion protein called PML-RARA, which is found in the majority of APL cases.
Testing for mutations in the PML gene can be done through genetic tests that examine the DNA sequence of the gene. This information can be useful in diagnosing certain health conditions and guiding treatment decisions. The PML gene is also a focus of scientific research, with numerous articles and references available in scientific journals and databases such as PubMed.
In addition to being associated with diseases, the PML gene and its protein have also been implicated in other cellular processes, including DNA repair, viral defense mechanisms, and cellular differentiation. Understanding the functions of the PML gene and its protein can have implications for various fields, including oncology, virology, and stem cell research.
The PML gene and its variants have also been included in gene registries and databases that aim to collect and disseminate information about genetic variations and their association with different diseases and conditions. These resources provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the PML gene and related genes.
Health Conditions Related to Genetic Changes
Genetic changes in the PML gene have been found to be associated with various health conditions. The PML gene is responsible for producing a protein known as promyelocytic leukemia protein, which plays a role in cell proliferation, apoptosis (cell death), and other cellular processes.
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One of the most well-known conditions related to genetic changes in the PML gene is acute promyelocytic leukemia (APL). This is a type of leukemia that affects cells in the bone marrow, specifically the promyelocytes. The PML gene is often fused with another gene called RARA, resulting in a fusion protein that disrupts normal cell functions and leads to the development of APL.
Genetic testing can be done to identify changes in the PML gene and the associated health conditions. There are resources available, such as PubMed, where scientific articles and references related to the PML gene and its variants can be found. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic diseases and the corresponding genes.
The PML gene and its related proteins are also involved in other diseases and conditions. Some of the health conditions listed in the OMIM database include PML-related disorders, various types of cancer, neurodegenerative diseases, and immune system disorders.
Additional research and testing are needed to further understand the role of the PML gene and its genetic changes in these health conditions. The PML Protein Registry provides a catalog of PML gene variants and their associated diseases.
Acute promyelocytic leukemia
Acute promyelocytic leukemia (APL), also known as acute promyelocytic leukemia (APML), is a variant of acute myeloid leukemia (AML). APL is characterized by genetic changes in the PML gene and is associated with certain conditions.
The PML gene plays a role in apoptosis, cell proliferation, and differentiation. Changes in this gene can lead to the abnormal growth and differentiation of promyelocyte cells in the bone marrow.
APL is a rare form of AML, accounting for approximately 10-15% of all cases. It can be diagnosed through genetic testing, which identifies the specific changes in the PML gene. Additional tests, such as bone marrow biopsy, may be done to confirm the diagnosis.
Scientific articles and references related to APL can be found in databases such as PubMed, OMIM, and the Leukemia Research Registry. These resources provide information on the latest research, genetic variants, and treatment options for APL.
Patients with APL may be treated with medications that target the abnormal proteins produced by the PML gene. This can help to induce apoptosis in the leukemia cells and promote differentiation. Other treatment options, such as chemotherapy and stem cell transplantation, may also be considered.
For more information on APL and other diseases related to PML gene changes, refer to the catalog of genetic testing resources and databases available.
References:
- OMIM: https://www.omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Leukemia Research Registry: https://www.leukemia-registry.org/
Other Names for This Gene
- PML gene
- PML-RARA related gene
- bone marrow and promyelocytic leukemia
- Promyelocyte leukemia
- PML/RARA
- Promyelocyte leukemia associated
- RARA/PML
- RARA/PML related gene
- RARA-PML gene
- acute promyelocytic leukemia, promyelocytic leukemia gene
This gene is also referred to by different names in various scientific resources. See the table below for other genes and the diseases related to this gene.
| Gene | Diseases |
|---|---|
| PML gene | Acute promyelocytic leukemia |
| PML-RARA | Acute promyelocytic leukemia |
| PML gene | Leukemia, acute promyelocytic, variant 5 |
| PML gene | Leukemia, acute promyelocytic, variant 6 |
Additional information about testing, changes to this gene, related genes, and conditions can be found in the references and resources listed below.
Additional Information Resources
For additional information on the PML gene, you can refer to the following resources:
- PubMed: Search for relevant articles on the PML gene, leukemia, apoptosis, promyelocyte, and related topics.
- OMIM (Online Mendelian Inheritance in Man): Find genetic and protein information on the PML gene and related conditions.
- GeneTests: Access genetic testing information for PML gene changes and variant testing for certain diseases and conditions.
- Leukemia and Lymphoma Society: The scientific reference for acute promyelocytic leukemia (APL) providing information on diagnosis, testing, treatment options, and more.
- National Marrow Donor Program: Get information on bone marrow and stem cell transplantation and the registry for potential donors.
- POG (Promyelocytic Proliferation Group): An online catalog of PML proteins and their associated functions.
- ClinicalTrials.gov: Discover ongoing clinical trials and research studies related to PML gene and associated conditions.
These resources will provide you with additional information on the PML gene, its functions, associated diseases, testing, and related scientific research.
Tests Listed in the Genetic Testing Registry
In the context of the PML gene, there are several tests listed in the Genetic Testing Registry (GTR) that are related to this gene and its associated genetic conditions. The GTR is a comprehensive database of genetic tests provided by various laboratories and is a valuable resource for obtaining information on genetic testing.
Below is a list of some of the tests listed in the GTR that are relevant to the PML gene:
- Test Name: PML gene testing
- Condition/Disease: Acute promyelocytic leukemia
- Test Method: Polymerase chain reaction (PCR)
- Test Description: This test detects changes or variants in the PML gene associated with acute promyelocytic leukemia, a type of leukemia characterized by abnormal proliferation of promyelocyte cells in the bone marrow.
- References: PubMed articles and OMIM
These tests are specifically designed to identify changes or variants in the PML gene that are associated with certain genetic conditions or diseases, such as acute promyelocytic leukemia. The information obtained from these tests can help with diagnosis, prognosis, and treatment decisions for individuals with these conditions.
The GTR provides additional resources, such as scientific articles and catalog information, to further understand the PML gene and its role in genetic conditions. It serves as a centralized platform for accessing information on various genetic tests related to different genes and genetic conditions, making it a valuable resource for researchers, healthcare professionals, and individuals seeking genetic testing.
Scientific Articles on PubMed
The PML gene, also known as the promyelocytic leukemia gene, is a genetic variant that is associated with certain conditions, such as acute promyelocytic leukemia. It plays a crucial role in the proliferation and differentiation of promyelocytic cells in the bone marrow.
PubMed is a valuable resource for finding scientific articles related to the PML gene. It provides information on research articles, reviews, and other references that discuss the genetic changes, protein variants, and testing methods associated with the PML gene.
Some of the proteins listed in PubMed that are related to the PML gene include RARA, which is a protein involved in apoptosis and differentiation of cells. Additional genes and proteins associated with the PML gene include those involved in various diseases and conditions, such as acute myeloid leukemia and other forms of leukemia.
PubMed also provides resources for accessing information from databases like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These databases contain information on genetic conditions, genes, and testing methods related to the PML gene.
In conclusion, PubMed is a valuable tool for accessing scientific articles on the PML gene. It provides information on the genetic variants, proteins, and conditions associated with this gene. Researchers and healthcare professionals can use PubMed to stay up-to-date with the latest research on the PML gene and its role in health and disease.
Catalog of Genes and Diseases from OMIM
OMIM, the Online Mendelian Inheritance in Man database, is a comprehensive catalog of genes and diseases. It provides valuable information on genetic conditions and serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding various genetic disorders.
This catalog includes a wide range of genes and diseases, including the PML gene. The PML gene is responsible for the production of the PML protein, which plays a crucial role in cell proliferation, differentiation, and apoptosis. Changes or mutations in this gene can lead to the development of certain diseases, such as acute promyelocytic leukemia.
The catalog lists genes and diseases in alphabetical order, making it easy to navigate and find the desired information. Each entry includes the gene name, protein name, related diseases, and scientific articles and references for additional information.
OMIM provides a wealth of information on various genetic conditions and serves as a valuable resource for genetic testing and research. It offers a registry of genetic tests and laboratories that offer testing services related to specific genes and diseases. This allows individuals and healthcare professionals to easily find testing resources for specific conditions.
In addition to the catalog of genes and diseases, OMIM also provides links to other databases and resources, such as PubMed, where users can find scientific articles related to specific genes or diseases.
Overall, OMIM serves as a comprehensive and reliable source of information on genes, proteins, and related diseases. Its catalog and resources play a crucial role in advancing our understanding of genetic conditions and improving the health and well-being of individuals affected by these conditions.
Gene and Variant Databases
In the field of genetics, gene and variant databases are valuable resources that provide information on genes and their associated variants. These databases play a crucial role in understanding the role of specific genes in various biological processes and diseases. Two well-known gene and variant databases are OMIM (Online Mendelian Inheritance in Man) and Cells.
OMIM: OMIM is a comprehensive database that catalogs information on genes and genetic conditions. It provides a wealth of information on the genetic basis of human diseases, including information on the PML gene. OMIM contains detailed descriptions of genes, including their names, functions, and the diseases they are associated with. It also provides access to scientific articles, references, and other related resources.
Cells: Cells is a gene and variant database that focuses on the study of hematopoietic cells, especially those in the bone marrow. It provides information on genes and proteins involved in processes such as cell proliferation, differentiation, and apoptosis. The PML gene is related to conditions such as acute promyelocytic leukemia (APL), and Cells provides information on the changes in the PML gene that are associated with this disease.
In addition to OMIM and Cells, there are several other gene and variant databases that provide information on genes and their associated variants. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and other health conditions.
Gene and variant databases are useful for a variety of purposes, including genetic testing, research, and clinical practice. They are particularly helpful in diagnosing certain genetic disorders and guiding the management and treatment of these conditions. By providing up-to-date and comprehensive information on genes and their variants, these databases contribute to the advancement of scientific knowledge and the improvement of human health.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetics and the role of specific genes in health and disease. They provide a wealth of information on genes, their functions, and their associated variants, helping researchers and healthcare professionals make informed decisions and advancements in the field of genetics.
References
1. PML gene. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/6284/pml-gene. Accessed April 15, 2022.
2. Oakley RH, Ren R, Cruz C, et al. PML protein isoforms and the RBCC/TRIM motif. Oncogene. 2007;26(52):7283-7293.
3. PML gene – PubMed – NCBI. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PML+gene. Accessed April 15, 2022.
4. PML gene – OMIM – NCBI. Available at: https://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc&search=PML+gene. Accessed April 15, 2022.
5. Promyelocytic leukemia – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/PML. Accessed April 15, 2022.
6. The PML gene and its role in acute promyelocytic leukemia. American Society of Hematology. Available at: https://www.hematology.org:443/education/patients/blood-cancers/1117.aspx. Accessed April 15, 2022.
7. Bonilla WV, Pinschewer DD, Klenerman P, et al. Effects of promyelocytic leukemia protein on virus-host balance. J Virol. 2002;76(8):3822-3828.
8. PML (gene). In: Human Gene Mutation Database. Available at: https://portal.biobase-international.com/hgmd/pro/geneSymbolPm?search=PML+gene#HGMD-structure-tabs-gene. Accessed April 15, 2022.
9. Cenit MC, Zhang Y, Gaulton KJ, et al. Fine-mapping of PML gene in Latino populations confirms genetic heterogeneity. Sci Rep. 2016;6:31090.
10. Catalog of. Human Genes and Genetic Disorders. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=PML. Accessed April 15, 2022.
