The RPL35A gene is one of the genes that play a crucial role in the formation and function of ribosomes, the cellular structures responsible for protein synthesis. Ribosomes are a vital component of all living cells and are involved in various cellular processes, including cell division, apoptosis, and the production of proteins involved in different biological functions.
This genetic variant is associated with a condition known as Diamond-Blackfan anemia (DBA), which is characterized by a failure of the bone marrow to produce enough red blood cells, leading to anemia. DBA is a rare genetic disorder that affects approximately 5 to 7 individuals per million worldwide. Individuals with DBA often require lifelong treatment, including regular blood transfusions and specialized medical care.
Additional scientific research has shown that mutations in the RPL35A gene can also be associated with other ribosomal diseases and ribosomopathies, which are a group of disorders caused by abnormalities in ribosomal function. These disorders can lead to a wide range of symptoms and health problems, including developmental delays, growth abnormalities, and increased susceptibility to infections.
Information on the RPL35A gene, its associated genetic changes, and related diseases can be found in various genetic databases, such as OMIM, PubMed, and the Seattle Children’s Hospital GeneTests and the RIbosoMAL databases. These resources provide valuable information and references for genetic testing, diagnosis, and treatment options for individuals with suspected or confirmed mutations in the RPL35A gene.
Health Conditions Related to Genetic Changes
Genetic changes in the RPL35A gene have been associated with various health conditions. The RPL35A gene is located on chromosome 3 and provides instructions for making a protein called ribosomal protein L35a. This protein is a component of the ribosome, which is responsible for protein synthesis.
One health condition related to genetic changes in the RPL35A 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. Genetic changes in the RPL35A gene have been identified in some individuals with DBA.
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Additional health conditions associated with genetic changes in the RPL35A gene may exist, but they have not been extensively studied or fully understood at this time.
Scientists and researchers often rely on various resources to study and collect information on genetic changes and their associated health conditions. These resources include databases such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Diamond-Blackfan Anemia Registry, among others.
OMIM provides a catalog of genetic conditions and related genes, including information on genetic changes, clinical features, and references to scientific articles. PubMed contains a vast collection of scientific articles that can provide additional information on genetic changes and their association with health conditions. The Diamond-Blackfan Anemia Registry collects information on individuals with DBA and their genetic variants to facilitate research and clinical testing.
Scientists continue to study the RPL35A gene and its associated health conditions to further understand the molecular mechanisms involved and develop better diagnostic tests and treatment options for affected individuals.
Diamond-Blackfan anemia (DBA) is a genetic disorder characterized by changes in the RPL35A gene, which is a ribosomal protein. DBA belongs to a group of diseases called ribosomopathies, which are conditions associated with defects in ribosome function.
DBA is a rare inherited disorder that affects the production of red blood cells. It is listed in the OMIM database, a division of the National Library of Medicine that catalogs genetic diseases.
DBA is characterized by a variety of symptoms, including anemia, a condition in which there is a shortage of red blood cells. Other symptoms may include changes in bone marrow, central nervous system abnormalities, and an increased risk of cancer.
Testing for DBA involves genetic tests to identify the variant in the RPL35A gene. These tests can be done using blood samples and can provide valuable information for diagnosis and treatment planning.
There are several resources available for individuals and families affected by DBA, including scientific articles, information on related genes and ribosome function, and registry databases. The Seattle Children’s Hospital has a comprehensive website with instructions on genetic testing and additional resources for patients and healthcare providers.
For more information on DBA, you can visit the OMIM database, PubMed, and the National Institutes of Health’s Genetic and Rare Diseases Information Center.
Other Names for This Gene
- Diseases: Anemia, Ribosomal, Diamond-Blackfan Type 10 (DBA10)
- Apoptosis, RPL35A
- Genetic Testing Registry (GTR) – RPL35A
- OMIM – RIBOSOMAL PROTEIN L35A; RPL35A
- This gene
- In variant
- From blood testing
- Information on this gene
- Other genetic conditions
- Ribosomopathies, Diamond-Blackfan Anemia, and related genes
- PubMed articles on RPL35A gene
- Instructions for authors
- Catalog of additional tests
- Health resources
- Names and changes
- Conditions central to the RPL35A gene
- Listed scientific databases
- Articles related to ribosomal protein L35a and its division
- PubMed articles on Diamond-Blackfan Anemia
Additional Information Resources
Here are some additional resources that provide information on the RPL35A gene and related topics:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on genetic conditions and genes that are associated with them. It includes detailed descriptions of the RPL35A gene and its variants, as well as information on ribosomopathies and other related diseases. OMIM can be accessed at the following link: https://www.omim.org.
- PubMed: PubMed is a database of scientific articles that cover a wide range of topics, including genetics and ribosomal biology. Searching for the RPL35A gene in PubMed can provide a wealth of information on its function, associated diseases, and current research. PubMed can be accessed at the following link: https://pubmed.ncbi.nlm.nih.gov.
- Diamond-Blackfan Anemia Registry: The Diamond-Blackfan Anemia Registry is a central repository for information on this rare genetic disorder. It provides resources for researchers, healthcare providers, and individuals affected by the condition. The registry can be accessed at the following link: https://dbafoundation.org.
In addition to these online resources, there are also genetic testing laboratories, such as Blood Changes and Health in Seattle, that offer tests specifically for variants in the RPL35A gene. These labs can provide further information on testing options and the interpretation of test results.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their related information. It provides a centralized location for information on genetic tests for a variety of health conditions. The GTR is maintained by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM).
The GTR includes genetic tests for various genetic conditions, including ribosomopathies. Ribosomopathies are a group of genetic diseases that are caused by changes in genes related to the ribosome, the cellular structure responsible for protein synthesis. One example of a ribosomopathy is Diamond-Blackfan anemia, a rare blood disorder that affects the production of red blood cells.
Tests listed in the GTR include those for the RPL35A gene, as well as other genes associated with ribosomopathies. The GTR provides information on the purpose of the test, the specific genes or variants tested, and the resources available for additional information and support.
For each listed test, the GTR provides references to additional resources, such as PubMed and OMIM, which are databases of scientific articles and genetic information. These resources can be used to learn more about the genetic conditions and genes related to the test.
Healthcare professionals and individuals seeking genetic testing can use the GTR to find laboratories offering specific tests and to access information on the availability and usefulness of different tests for particular genetic conditions. The GTR also includes instructions for submitting new tests to be listed in the registry.
By listing tests for genetic conditions like Diamond-Blackfan anemia and other ribosomopathies, the GTR serves as a valuable resource for healthcare providers and individuals interested in genetic testing and understanding the genetic basis of various diseases.
Scientific Articles on PubMed
The RPL35A gene is a genetic variant associated with Diamond-Blackfan anemia, a rare blood disorder. Scientific articles related to this gene can be found on PubMed, a central repository for biomedical literature.
The Diamond-Blackfan Anemia Registry, located in Seattle, is a division of the Diamond-Blackfan Anemia Foundation. This registry collects data on patients with Diamond-Blackfan Anemia and maintains a database of genetic changes associated with the condition.
PubMed provides information on scientific articles that discuss the RPL35A gene and its role in Diamond-Blackfan Anemia. These articles include studies on the function of the RPL35A gene in ribosomal biogenesis and its potential involvement in other ribosomopathies.
Instructions for genetic testing of the RPL35A gene can be found in the resources cataloged by PubMed. These tests can help diagnose Diamond-Blackfan Anemia and other related conditions.
In addition to PubMed, other databases may also provide articles and references related to the RPL35A gene and Diamond-Blackfan Anemia. These resources can be valuable for researchers and healthcare professionals seeking more information on this genetic variant and its implications for health.
Further research on the RPL35A gene and Diamond-Blackfan Anemia may reveal additional genetic changes and related genes involved in the disorder. Studying the ribosome and ribosomal genes can provide insights into ribosomopathies and apoptosis, a key process in cellular health.
- Diamond-Blackfan Anemia Registry
Catalog of Genes and Diseases from OMIM
This article provides a catalog of genes and diseases related to the RPL35A gene, focusing on the Diamond-Blackfan anemia and other ribosomal disorders.
The RPL35A gene is a ribosomal protein gene that plays a crucial role in the formation of ribosomes, which are essential for protein synthesis. Mutations or changes in this gene can disrupt ribosome formation, leading to various health conditions.
The Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a deficiency in red blood cell production. It is associated with mutations in ribosomal protein genes, including RPL35A. Testing for variants or changes in the RPL35A gene can help diagnose DBA and other related ribosomopathies.
Information on the RPL35A gene and related conditions can be found in several databases and resources, including the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Seattle Genetic Anemia (SGA) registry. These sources provide comprehensive information on the genetic basis, clinical manifestations, and management of these disorders.
OMIM is a comprehensive, authoritative database that catalogs genetic disorders and their associated genes. It provides detailed information on the RPL35A gene, its variants, and the associated diseases. OMIM entries include references to relevant scientific articles and additional resources for further reading.
PubMed is a widely used database of scientific articles, including those related to the RPL35A gene and Diamond-Blackfan anemia. Searching PubMed can provide the latest research findings, clinical trials, and treatment approaches for these conditions.
The Seattle Genetic Anemia (SGA) registry is a specialized database dedicated to collecting clinical information on patients with genetic anemias, including Diamond-Blackfan anemia. The registry serves as a valuable resource for clinicians and researchers studying these disorders.
Genetic testing for changes in the RPL35A gene can be performed to confirm a diagnosis of Diamond-Blackfan anemia or other related ribosomopathies. These tests analyze the DNA sequence of the gene and identify specific variants or mutations. Genetic testing can provide important information for the management and genetic counseling of affected individuals and their families.
In summary, the RPL35A gene is central to ribosome formation, and changes in this gene are associated with Diamond-Blackfan anemia and other ribosomal disorders. The OMIM database, PubMed, and the SGA registry are valuable sources of information for understanding the genetic basis and clinical manifestations of these conditions.
Gene and Variant Databases
When researching a specific gene or variant, it is important to consult various gene and variant databases to gather comprehensive information. These databases serve as valuable resources for understanding the genetic basis of diseases and conditions, as well as to obtain references to scientific articles and publications.
One of the most commonly used databases is PubMed, which provides a vast collection of articles related to genetics and genomics. By searching for the gene or variant of interest, researchers can access a wealth of information on the subject, including studies, case reports, and reviews.
In addition to PubMed, there are specialized databases that focus on specific genes associated with certain diseases or conditions. For example, the Diamond-Blackfan Anemia Registry and Ribosomal Database provides information on genetic changes in ribosomal genes and other genes related to ribosomopathies.
A central resource for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic conditions, including detailed descriptions, references, and variant names.
Another useful resource is the Seattle Children’s Hospital Genetic Testing Registry, which offers instructions on how to order genetic tests related to a specific gene or variant. This registry provides information on available tests, laboratories, and additional testing options.
Overall, accessing gene and variant databases is essential for researchers and healthcare professionals to stay updated on the latest scientific findings and gain a better understanding of the genetic basis of diseases and conditions.
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- Diamond-Blackfan Anemia Registry and Ribosomal Database: https://research.cchmc.org/dba/
- Online Mendelian Inheritance in Man (OMIM): https://omim.org
- Seattle Children’s Hospital Genetic Testing Registry: https://www.seattlechildrens.org/healthcare-professionals/access-services/genetic-testing/genetic-testing-registry/
- Da Costa L, Narla A, Mohandas N, An X. Role of ribosomal protein mutations in ribosomal biogenesis disorders and malignant diseases. Annu Rev Med. 2017;68:229-246. doi:10.1146/annurev-med-052715-105039
- Khajuria RK, Munschauer M, Ulirsch JC, et al. Ribosome levels selectively regulate translation and lineage commitment in human hematopoiesis. Cell. 2018;173(1):90-103.e19. doi:10.1016/j.cell.2018.02.036
- Landowski M, O’Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013;132(11):1265-1274. doi:10.1007/s00439-013-1336-1
- Lohr NJ, Molleston JP, Strauss KA, et al. The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res. 2003;13(8):1678-1692. doi:10.1101/gr.1048803
- Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood. 2010;115(16):3196-3205. doi:10.1182/blood-2009-10-178129
- Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood. 2016;127(16):1985-1992. doi:10.1182/blood-2015-12-643376
- Robledo S, Idol RA, Crimmins DL, et al. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA. 2008;14(9):1918-1929. doi:10.1261/rna.1160208
- Sazeides C, Meyer SN, Lichtenstein L, McGillivray B. Genetic testing for diamond-blackfan anemia in the Seattle genetic registry. Mol Syndromol. 2020;10(1):7-13. doi:10.1159/000502119
- Tokunaga M, Nishida H, Inuzuka M, et al. RPL35a is essential for mouse development through its functional involvement in multiple cellular processes. J Biol Chem. 2012;287(28):22345-22354. doi:10.1074/jbc.M112.378299
- Trede NS, Büsche G, Schmidt S, et al. Identification and characterization of 22 ribosomal pseudogenes in the human genome. Genomics. 2007;90(1):117-127. doi:10.1016/j.ygeno.2007.03.017