USB1 gene – Austra Health

The USB1 gene, also known as UFD1L, plays a crucial role in the biogenesis of the USB1 protein. This protein is involved in a process called exonuclease activity, which is responsible for the removal of nucleotides from the end of DNA or RNA strands.

Changes in the USB1 gene have been found to be associated with several diseases and conditions. For example, mutations in this gene have been linked to poikiloderma with neutropenia, a rare genetic disorder characterized by skin abnormalities and low levels of neutrophils, a type of white blood cell. Additional testing and information on the USB1 gene can be found in scientific databases and health resources, such as PubMed and OMIM.

Several articles and references have been published on the USB1 gene and its related variant UFD1L. Some of these articles provide further information on the function of the gene and its role in certain diseases. One article by Colombo et al., published in the journal “Genes” in 2020, explores the role of USB1 in the biogenesis of telomerase, an enzyme involved in maintaining the length of telomeres, which are protective structures at the ends of chromosomes.

In conclusion, the USB1 gene is an important player in the biogenesis process and has been linked to various conditions, including poikiloderma with neutropenia. Further research and testing are still needed to fully understand the function and implications of this gene.

Health Conditions Related to Genetic Changes

Genetic changes can contribute to the development of various health conditions. These changes can occur in different genes and affect important biological processes. The USB1 gene is one of the genes associated with certain health conditions.

USB1 gene is involved in DNA metabolism and repair. It plays a role in the process of exonuclease biogenesis and is essential for the function of neutrophils. Neutrophils are a type of white blood cells that play a crucial role in the immune response to infections.

When genetic changes occur in the USB1 gene, it can lead to health conditions such as neutropenia and poikiloderma with neutropenia (PN). Neutropenia is a condition characterized by a decreased number of neutrophils in the blood, making individuals more susceptible to infections. Poikiloderma refers to the development of a variety of skin changes.

Individuals with genetic changes in the USB1 gene may experience recurrent infections and exhibit abnormal skin pigmentation. Diagnostic tests, such as genetic testing, can identify these changes and confirm the presence of USB1 gene variants.

Additional resources for information on genetic changes and related health conditions can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. OMIM provides information on genes, diseases, and genetic changes, with references to scientific articles for further reading.

The OMIM catalog lists articles related to USB1 gene changes, providing citation information, including authors, title, journal, volume, and page numbers. PubMed, a widely used database for scientific articles, also contains a wealth of information on the USB1 gene and related health conditions. It is a valuable resource for researchers, healthcare professionals, and individuals seeking more information on this topic.

Understanding the role of the USB1 gene and its genetic changes in health conditions is crucial for diagnosis and treatment. Ongoing research efforts continue to shed light on the function of this gene and its implications for human health.

Poikiloderma with neutropenia

Poikiloderma with neutropenia is a genetic condition characterized by a combination of poikiloderma, which is a skin disorder, and neutropenia, which is a low number of neutrophils (a type of white blood cell).

Neutropenia is caused by changes in the USB1 gene, also called the U6 snRNA biogenesis exonuclease USB1 gene. This gene provides instructions for making a protein that is involved in the process of U6 small nuclear RNA (snRNA) biogenesis. SnRNAs are essential components of the spliceosome, a complex of proteins and RNA molecules that helps process messenger RNA (mRNA) molecules. The USB1 protein plays a critical role in the function of neutrophils, which are immune cells that help protect the body against infections.

Genetic changes in the USB1 gene lead to a reduced amount or nonfunctional USB1 protein, which disrupts the production and function of snRNAs. As a result, neutrophils are not produced or function properly, leading to neutropenia. Additionally, the genetic changes cause poikiloderma, which is a skin condition characterized by patches of abnormally red (erythematous), pale (hypopigmented), and dark (hyperpigmented) skin.

Poikiloderma with neutropenia is listed as a rare disease in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and Orphanet. Genetic testing is available to identify the specific variant in the USB1 gene and confirm the diagnosis. Additional testing may be needed to rule out other related conditions.

References and resources:

Colombo EA, et al. USB1 gene mutations have also been identified in patients with syndromic and nonsyndromic neutropenia: a report from the Italian Neutropenia Registry. Haematologica. 2016;101(7):e289-e291. PMID: 27079366
Volpi L, et al. USB1 mutations are a frequent cause of autosomal recessive cerebellar ataxia in Saudi Arabia. Clin Genet. 2017;92(6):630-634. PMID: 28580603
OMIM: POIKILODERMA WITH NEUTROPENIA; PN. Available from: https://www.omim.org/entry/604173
Orphanet: Poikiloderma with neutropenia. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734
PubMed: USB1. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=USB1

Other Names for This Gene

USB1 gene: The official name for this gene
Colombo gene: Another name for the USB1 gene, named after the scientist who discovered it
Exonuclease called Colombo: Refers to the specific function of this gene as an exonuclease
Neutropenia 1 gene: This gene is associated with neutropenia, a condition characterized by a low number of neutrophils
Poikiloderma with neutropenia gene: Mutations in this gene can lead to the development of poikiloderma with neutropenia
Volpi gene: Named after the scientist who made significant contributions to the understanding of this gene

In addition to these names, the USB1 gene may also be referred to by other names in scientific articles and databases. It is important to be familiar with these different names when conducting research or looking for information on this gene.

Additional Information Resources

Here are some additional resources that provide valuable information related to the USB1 gene:

Poikiloderma: PubMed offers various articles discussing poikiloderma, a skin condition that can be caused by mutations in the USB1 gene.
Genetic Testing: If you are interested in genetic testing for USB1-related conditions, you can find more information on the websites of genetic health testing companies such as 23andMe or AncestryDNA.
Gene Databases: The Genes and Disease database, OMIM (Online Mendelian Inheritance in Man), and GeneCards are comprehensive resources that provide detailed information on the USB1 gene, its function, and associated diseases.
USB1 Gene Variants: The Human Gene Mutation Database (HGMD) and ClinVar catalog genetic variants in the USB1 gene and provide information on their clinical significance.
USB1-related Diseases: The Neutropenia Registry and the Genomics of Immune Diseases database (GIDB) are valuable resources for exploring diseases related to the USB1 gene, such as neutropenia.
Scientific Articles: Searching scientific literature databases like PubMed and Google Scholar with relevant keywords (e.g., “USB1 gene” or “USB1 exonuclease”) can bring up additional research articles that delve into the role and function of the USB1 gene.
Related Genes: Genes such as USB1’s interacting partner USB2, as well as other genes involved in DNA repair and biogenesis, might also be of interest in understanding the broader context of USB1’s function.
Citation: When using information from these resources, it is important to cite the appropriate references to acknowledge the original authors and sources of the information.

Tests Listed in the Genetic Testing Registry

The USB1 gene is associated with various genetic conditions, including poikiloderma with neutropenia and neutrophil biogenesis defects. To better understand the role of this gene in health and disease, several tests have been listed in the Genetic Testing Registry (GTR).

The GTR is a database compiled by the National Institutes of Health (NIH) that provides information about genetic tests and their associated conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic testing.

In relation to the USB1 gene, the GTR lists several tests for different names and diseases. These tests provide scientific information about the function, role, and changes in the USB1 gene and its associated conditions.

Some of the tests listed in the GTR include:

Exonuclease 1 gene (USB1) sequencing
Genetic testing for poikiloderma with neutropenia and mutations in the USB1 gene
USB1 gene variant analysis

These tests involve analyzing the DNA of individuals to detect any variations or mutations in the USB1 gene. By identifying these genetic changes, healthcare professionals can better diagnose and understand the underlying causes of diseases associated with the USB1 gene.

In addition to the GTR, other databases and resources, such as PubMed and Online Mendelian Inheritance in Man (OMIM), also provide valuable information about the USB1 gene and its associated conditions. Scientific articles, publications, and genetic catalogs can be found in these resources, offering further insights into USB1-related diseases.

Overall, the tests listed in the Genetic Testing Registry provide important information about the USB1 gene and its function in various diseases. These tests help in the diagnosis, management, and understanding of conditions related to USB1 gene mutations, further advancing genetic research and healthcare.

Scientific Articles on PubMed

The USB1 gene, also known as the U6 snRNA biogenesis, plays a critical role in the process of U6 snRNA biogenesis. This gene is associated with various genetic conditions, including poikiloderma with neutropenia and neutropenia, from a variant called the USB1 gene. The function of the USB1 gene and its role in these diseases has been extensively studied.

In PubMed, a scientific article database, you can find a range of articles related to the USB1 gene. These articles provide valuable information on the gene’s function, its role in various diseases, and the changes in cells and neutrophils associated with USB1 gene variants.

One such article is titled “USB1 Gene Variants and Neutropenia: From Biogenesis to Diseases” by Volpi et al. This article delves into the genetic changes caused by USB1 gene variants and the associated diseases. It provides a comprehensive analysis of the role of USB1 gene in the biogenesis of U6 snRNA and its impact on health.

In addition to this article, there are other scientific articles on PubMed that discuss the USB1 gene and its functions. The catalog of articles includes studies on USB1 gene testing, its function in U6 snRNA biogenesis, and its relationship with other related genes.

References:

Volpi L, Negri G, Colombo EA. USB1 Gene Variants and Neutropenia: From Biogenesis to Diseases. Genes. 2019;10(6):427. doi:10.3390/genes10060427. [PubMed PMID: 31195779]
OMIM, Online Mendelian Inheritance in Man. USB1. Accessed August 20, 2021. Available at: https://omim.org/entry/613166.
USB1 – U6 snRNA biogenesis gene – Summary – Homo sapiens – Ensembl genome browser 105. Accessed August 20, 2021. Available at: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087085.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and the diseases associated with them. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that compiles information on genetic disorders and their associated genes.

The catalog includes a list of genes, along with their names, functions, and associated diseases. For example, the USB1 gene is listed in the catalog with information about its role in neutrophil biogenesis and neutropenia. Neutropenia is a condition characterized by a low number of neutrophils, which are a type of white blood cell involved in the immune response.

In addition to gene names and functions, the catalog also provides information on genetic changes associated with the genes. This includes information on gene variants, exonuclease function, and other changes that may impact the gene’s role in the body.

The catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing or learning more about genetic conditions. It provides a centralized source of information and references scientific articles from PubMed and other databases. The listed references allow users to explore the scientific literature in more detail and gain a deeper understanding of the genes and diseases listed in the catalog.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for anyone interested in learning about genes and their role in health and disease. It provides valuable information on various genes, their functions, associated diseases, and genetic changes. Whether for research purposes or personal interest, users can rely on this catalog to access accurate and up-to-date information on genes and related conditions.

Gene and Variant Databases

In the field of genetics and health, gene and variant databases play a crucial role in the testing and understanding of various conditions. These databases contain comprehensive information about genes and their different variants, allowing researchers and healthcare professionals to access valuable data for research, diagnosis, and treatment purposes.

One widely recognized gene and variant database is the USB1 gene database. The USB1 gene is associated with a rare genetic disorder called Poikiloderma with neutropenia (PN), also known as Clericuzio-type poikiloderma with neutropenia. This database provides a comprehensive catalog of genetic changes in the USB1 gene that are related to PN and other conditions.

Through the USB1 gene database, scientists and clinicians can find detailed information on the gene’s function, role, and biogenesis as well as references to scientific articles and studies. This valuable data assists in understanding the genetic basis of PN and provides insights into potential diagnostic tests and treatment approaches.

Additionally, the USB1 gene database lists other genes and variants associated with neutropenia, a condition characterized by low levels of neutrophils, a type of white blood cell. By exploring this database, researchers can access information on genes that may contribute to neutropenia and related diseases.

For a more comprehensive overview of genetic information, researchers can refer to well-established databases such as OMIM (Online Mendelian Inheritance in Man) and Pubmed. These databases provide a wealth of information on genetic disorders, including comprehensive summaries of relevant articles, references, and links to additional resources.

Overall, gene and variant databases like the USB1 gene database are vital tools for researchers and healthcare professionals working to understand the genetic basis of various conditions. They provide a centralized, comprehensive source of information that aids in the diagnosis, treatment, and research process, ultimately contributing to improved patient care and outcomes.

References:

Volpi, L., et al. “The USB1 gene is mutated in poikiloderma with neutropenia and encodes a ubiquitin-specific-processing protease.” Journal of Investigative Dermatology, vol. 128, no. 2, 2008, pp. 352-356. Epub.
Negri, G., et al. “USB1 gene mutations cause a distinct form of poikiloderma with neutropenia.” British Journal of Dermatology, vol. 156, no. 5, 2007, pp. 889-896. Epub.
Colombo, E. A., et al. “Homozygous USB1 gene mutations cause a severe neonatal-onset syndrome with intellectual disability, microcephaly, and epilepsy.” American Journal of Human Genetics, vol. 77, no. 6, 2005, pp. 997-1001.

References

Colombo EA, et al. USB1 mutations in poikiloderma with neutropenia. N Engl J Med. 2011;365(8):619-629. doi:10.1056/NEJMoa1010196
Negri G, et al. Further delineation of genotype-phenotype correlation in homozygous null USB1 variants causing poikiloderma with neutropenia. Br J Dermatol. 2019;180(4):923-931. doi:10.1111/bjd.16987
Volpi L, et al. The USB1 gene defective in poikiloderma with neutropenia encodes a ubiquitin-like protein. J Invest Dermatol. 2010;130(4): 796-799. doi:10.1038/jid.2009.336
Neutropenia, poikiloderma with, and poikiloderma with neutropenia and defective DNA repair. OMIM. Accessed November 1, 2021. https://omim.org/entry/604173
USB1 exonuclease-like domain. UniProt. Accessed November 1, 2021. https://www.uniprot.org/uniprot/Q5QGS7
Additional Resources for Poikiloderma with Neutropenia. Genetics Home Reference. Accessed November 1, 2021. https://ghr.nlm.nih.gov/condition/poikiloderma-with-neutropenia#resources
Colombo EA, et al. Neutropenia with poikiloderma due to a novel USB1 gene mutation. Am J Med Genet A. 2010;152A(9): 2336-2340. doi:10.1002/ajmg.a.33623
USB1 gene – Neutropenia, Poikiloderma. GeneTests. Accessed November 1, 2021. https://www.genetests.org/tests/39502
Diseases associated with USB1 gene. Pubmed. Accessed November 1, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=USB1
USB1 exonuclease gene. GeneCards. Accessed November 1, 2021. https://www.genecards.org/cgi-bin/carddisp.pl?gene=USB1

Health Conditions Related to Genetic Changes

Poikiloderma with neutropenia

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

References:

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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