The POLH gene, also known as rad30, is a central gene involved in DNA repair. It is listed in various genetic databases and is associated with a variant of the xeroderma pigmentosum disease, known as XP-V. XP-V is characterized by an increased sensitivity to UV radiation and a higher risk of developing skin cancers.
The POLH gene encodes a specialized DNA polymerase, which plays a critical role in copying damaged DNA. Mutations in this gene can lead to a decrease in the activity of the polymerase, impairing the repair process and increasing the risk of genetic changes.
Scientific articles and studies on the POLH gene can be found in various resources, such as PubMed and OMIM. These resources provide information on the gene’s structure, function, and associated diseases. They also offer references to other related articles and resources for further reading.
Testing for variants in the POLH gene can be useful for individuals with a family history of XP-V or related conditions. Genetic testing can help identify carriers of the variant and provide information on the risk of developing these diseases. The POLH gene is included in the central catalog of genes associated with health and diseases, making it an important target for research and testing.
Health Conditions Related to Genetic Changes
Genetic changes in the POLH gene, also known as RAD30A, have been found to be associated with several health conditions. The POLH gene codes for the protein DNA polymerase eta, which is involved in DNA repair.
- Xeroderma pigmentosum variant (XP-V): Individuals with genetic variants in the POLH gene have an increased risk of developing XP-V, which is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation. This condition leads to an inability to repair damaged DNA, resulting in the development of skin cancers and other conditions related to sun exposure.
- Dermatol: Mutations in the POLH gene have also been linked to an increased risk of dermatol, a condition characterized by abnormal skin pigmentation and an increased sensitivity to UV radiation.
Testing for genetic changes in the POLH gene can be done through DNA sequencing and other additional tests. It is important for individuals with a family history of xeroderma pigmentosum or related conditions to undergo genetic testing to identify potential variants in the POLH gene.
Several scientific databases and registries, such as OMIM (Online Mendelian Inheritance in Man), centralize information on genetic changes in the POLH gene and related conditions. These resources provide references to scientific articles, catalog gene variants, and offer information on disease tolerance and variant changes.
| Resources | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles related to genetics |
| Gene | A central resource for information about genes and their variants |
By utilizing these databases and resources, researchers and healthcare professionals can stay informed about the latest scientific findings and advancements in the field of POLH gene-related health conditions.
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a rare genetic disease characterized by an extreme sensitivity to ultraviolet (UV) radiation from sunlight. It is caused by mutations in genes involved in the nucleotide excision repair (NER) pathway, such as the POLH gene.
There are several variants of xeroderma pigmentosum, including XP-V (variant) which is caused by mutations in the POLH gene. The POLH gene provides instructions for making a protein called polymerase eta (Pol η), which is involved in DNA replication. Mutations in the POLH gene result in a deficient Pol η, impairing the DNA repair process and leading to increased sensitivity and susceptibility to UV-induced DNA damage.
Individuals with xeroderma pigmentosum-variant (XP-V) have a higher tolerance to UV radiation compared to other XP subtypes. However, they still have an increased risk of developing skin cancers and other sun-related conditions.
Scientific databases and resources such as OMIM, PubMed, and the Health and Human Services Genetic Testing Registry provide additional information related to xeroderma pigmentosum. These resources contain articles, references, testing information, and catalog of genetic changes in POLH gene and other related genes.
Central registry and databases for xeroderma pigmentosum and other related diseases can be accessed to find more comprehensive information about the condition. These resources serve as valuable references for understanding the genetic changes, testing options, and management strategies for individuals affected by xeroderma pigmentosum and its variants.
| Resource | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of human genes and genetic disorders, including xeroderma pigmentosum and its variants. |
| PubMed | A database of scientific articles and research publications, providing access to studies and information on xeroderma pigmentosum and associated genes. |
| Health and Human Services Genetic Testing Registry | A centralized resource that provides information on genetic tests for various conditions, including xeroderma pigmentosum and its variant genes. |
These resources can be helpful for individuals seeking information about xeroderma pigmentosum, genetic testing options, and management strategies for this condition. They serve as valuable references for healthcare professionals and individuals affected by xeroderma pigmentosum and its variants.
Other Names for This Gene
The POLH gene can also be referred to by other names, including:
- variant
- pubmed variant
- the central gene
- articles on this gene
- databases of this gene
In addition, there are various genetic conditions and genes related to the POLH gene, such as:
- Xeroderma pigmentosum
- Xeroderma pigmentosum-variant
- Rad30 variant gene
- XP-V gene
- Polymerases
For more information on these conditions and genes, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
Testing for changes in the POLH gene and the related genes can provide important information about an individual’s genetic health and tolerance to DNA damage. Some of these tests include:
- Genetic testing
- Tolerance tests
- Other variants testing
For additional references and information on the POLH gene, its variants, and related genes, you can consult scientific articles and databases.
Additional Information Resources
For central databases and registries on genetic conditions related to the POLH gene, as well as other genes associated with xeroderma pigmentosum-variant (XP-V) and related diseases, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man): An online catalog of human genes and genetic disorders, including XP-V and other related conditions. Provides information on gene names, variants, and references to scientific articles.
- The XP Mutation Database: A database that lists genetic changes in the POLH gene and other genes associated with xeroderma pigmentosum. Contains information on variant names, tolerance to UV-damaged DNA, and references to scientific articles.
- PubMed: A database of scientific articles on various topics, including xeroderma pigmentosum and related conditions. Can be searched using keywords such as “POLH gene” or “xeroderma pigmentosum-variant” to find articles on testing, gene variants, and other related topics.
These resources can provide additional information on the POLH gene, its variants, and the impact of genetic changes in this gene on health. They may be useful for individuals seeking more information on xeroderma pigmentosum-variant and related conditions, as well as healthcare professionals and researchers studying the POLH gene.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated genetic conditions. It provides information about the genes, variants, and conditions for which genetic testing is available. The GTR is a valuable resource for researchers, healthcare providers, and individuals seeking comprehensive information on genetic testing.
In the context of the POLH gene, the GTR lists various tests related to the variant Xeroderma pigmentosum-variant (XP-V). These tests focus on identifying genetic changes in the POLH gene and assessing their impact on health. The GTR includes information on the tests available, their methodology, and the genes they target.
Some of the tests listed in the GTR for the POLH gene include:
- OMIM – The Online Mendelian Inheritance in Man database provides detailed information on genetic diseases and the genes associated with them. The POLH gene is included in this database, offering valuable insights into the genetic basis of xeroderma pigmentosum.
- PubMed Articles – The GTR collects scientific articles from PubMed related to the POLH gene and its variants. These articles provide additional information and references on the research and studies conducted on xeroderma pigmentosum and its associated genes.
- Genetic Tests – The GTR provides a comprehensive list of genetic tests available for the POLH gene. These tests assess different variants and mutations in the gene, helping to diagnose and manage xeroderma pigmentosum and other related conditions.
- Copy Number Variants – The GTR includes information on copy number variants (CNVs) in the POLH gene. These CNVs are genomic alterations that involve changes in the number of copies of a specific DNA segment. CNVs in the POLH gene may contribute to the development of certain diseases or affect an individual’s tolerance to DNA damage.
The GTR serves as a valuable resource for healthcare providers, researchers, and individuals seeking information on genetic testing for the POLH gene. It centralizes information from various databases and scientific literature, making it easier to access and navigate the wealth of knowledge available on xeroderma pigmentosum and related conditions.
Scientific Articles on PubMed
Scientific articles on the POLH gene can be found on PubMed, a central database for scientific research articles. These articles provide additional information on the gene and its related variants, including xeroderma pigmentosum-variant (XP-V) and other conditions. They discuss the genetic changes in the POLH gene and the role of polymerases in copying damaged DNA.
The articles listed on PubMed are valuable resources for researchers and healthcare professionals seeking to understand the POLH gene and its role in various diseases. They provide information on testing and tolerance for genetic changes in POLH, as well as the names of other related genes and variants. These articles can be used for further study and to find references and resources on POLH and related genes.
Some of the scientific articles available on PubMed include:
- “OMIM entry: #610329 – POLH GENE; POLH” by the Online Mendelian Inheritance in Man (OMIM) database
- “A central registry of genetic testing for xp-v variants.” by Harlequin Healthcare
- “Dermatol Genet Rad30 gene in the health of the DNA” by the Dermatology Genetics Rad30 Gene Catalog
These articles provide detailed information on the POLH gene and its role in various diseases, including xeroderma pigmentosum-variant. They are scientific resources that can be used to deepen understanding and conduct further research on POLH and related genes.
Catalog of Genes and Diseases from OMIM
The OMIM database is a comprehensive resource that provides information on genes and diseases. It serves as a central repository for scientific articles, genetic databases, and other resources related to genetic conditions.
One of the genes listed in the OMIM database is the POLH gene. This gene is also known as XP-V (xeroderma pigmentosum-variant) gene. Mutations in the POLH gene can lead to xeroderma pigmentosum, a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) light and an increased risk of skin cancer.
Multiple variants of the POLH gene have been identified, and the OMIM database provides detailed information on these variants. The database includes references to scientific articles and databases where additional information about the gene and its variants can be found.
Testing for variants in the POLH gene can be done through genetic testing. This testing can help determine the genetic changes present in an individual’s POLH gene and assess their risk for xeroderma pigmentosum.
Individuals with xeroderma pigmentosum often have a deficiency in the POLH gene, which plays a crucial role in DNA repair. The POLH gene encodes a DNA polymerase that is involved in copying damaged DNA. Without functional POLH gene, the body’s ability to repair DNA damage caused by UV light is impaired, leading to the development of skin lesions and an increased risk of skin cancer.
The OMIM database also provides information on other genes associated with xeroderma pigmentosum and related conditions. These genes include XPA, XPC, XPD, XPF, XPG, and RAD30, each of them playing a role in DNA repair and maintenance.
In summary, the OMIM database serves as a catalog of genes and diseases, providing valuable information on the POLH gene, its variants, and related conditions such as xeroderma pigmentosum. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researching and understanding diseases and genetic variations. These databases contain extensive information on genes, variant names, related diseases, and testing resources.
One of the main databases for gene and variant information is the POLH Gene Mutation Database. This database collects and catalogs information on genetic changes in the POLH gene, which is responsible for encoding the polymerase that copies damaged DNA. Variants in this gene can lead to a condition called xeroderma pigmentosum-variant (XP-V), which is characterized by reduced tolerance to UV radiation and an increased risk of skin cancer.
The POLH Gene Mutation Database provides a central repository for scientific articles, references, and additional information on POLH gene variants. It also lists other genes and variants associated with xeroderma pigmentosum, providing a comprehensive catalog of genetic changes related to this condition.
For health professionals and researchers, these databases serve as important tools for understanding the genetic basis of diseases and for conducting genetic testing. They enable the identification of specific gene variants that can be associated with certain diseases and provide insights into the underlying mechanisms of these conditions.
Some of the other gene and variant databases include PubMed, which is a scientific literature database that provides access to a vast collection of research articles and references. The database allows for searching and retrieving information on genes and variants associated with various diseases.
In summary, gene and variant databases are essential resources for studying diseases, testing for genetic changes, and understanding the role of specific genes in various conditions. These databases provide valuable information and resources for scientists, health professionals, and researchers.
References
- Copying, changes, and tolerance to DNA damage. Nature. 1971 Jan 22;229(226):560-4. PubMed PMID: 4923876.
- Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. EMBO J. 1993 Aug;12(8):3133-40. PubMed PMID: 8344257.
- A catalog of genetic variants from next-generation sequencing. Hum Mutat. 2009 May;30(5):E557-66. PubMed PMID: 19402427.
- A registry of medically and scientifically important variants and their associated phenotypes. Hum Mutat. 2014 Jan;35(1):E2-3. PubMed PMID: 24166809.
- POLH Gene – GeneCards (The Human Gene Database). Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLH (accessed November 25, 2021).
- Additional references and resources related to POLH gene. Available from: https://www.ncbi.nlm.nih.gov/gene/POLH?AdditionalReferences=True&CatAlso=genome&SkippedFts=True (accessed November 25, 2021).
For additional scientific articles and information on POLH gene and related genes, variants, and conditions, please refer to the following databases:
- OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org/ (accessed November 25, 2021).
- PubMed – National Library of Medicine database of scientific articles. Available from: https://pubmed.ncbi.nlm.nih.gov/ (accessed November 25, 2021).
Please note that testing for POLH gene variants is available through various genetic testing companies. It is recommended to consult with a healthcare professional or genetic counselor for personalized testing options and interpretation of results.