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The BUB1B gene, also known as BUB1 beta, is a gene that is attached to the sister chromatids during cell division. It plays a crucial role in the cell cycle checkpoint, ensuring the accurate distribution of chromosomes to daughter cells. Mutations in this gene can cause various genetic disorders and lead to health conditions such as aneuploidy.

Scientists have conducted extensive research on the BUB1B gene and its associated disorders. The gene has been extensively studied and its genetic changes have been cataloged. Scientific articles and references for this gene can be found in databases such as PubMed and OMIM.

One of the conditions related to the BUB1B gene is called the mosaic variegated aneuploidy syndrome. This syndrome is characterized by changes in chromosome numbers and has been linked to mutations in the BUB1B gene. Clinical tests and genetic testing can be done to identify these mutations and provide important information about the individual’s health.

Understanding the BUB1B gene and its role in chromosome segregation can lead to advancements in the diagnosis and treatment of related diseases. Researchers continue to study this gene and its variants to uncover additional information and resources for improving health outcomes.

The BUB1B gene is known to be associated with various health conditions due to genetic changes. These changes can impact the functioning of the gene, leading to the development of specific disorders or diseases.

Genetic testing plays a crucial role in identifying these conditions, as it allows for the detection of changes in the BUB1B gene. By analyzing the DNA sequence of an individual, healthcare professionals can determine if there are any variations in this gene that may be the cause of certain health problems.

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There are several conditions related to genetic changes in the BUB1B gene that have been documented in scientific literature and databases. Some of these conditions include:

  • Mosaic Variegated Aneuploidy Syndrome (MVA): This rare disorder is characterized by a chromosomal instability that leads to abnormal numbers of chromosomes in cells. It is caused by variations in the BUB1B gene.
  • Rahman Syndrome: Also known as BUBR1-related microcephaly, this condition is characterized by severe intellectual disability, growth delays, and microcephaly (a small head size). It is caused by changes in the BUB1B gene.

Other health conditions related to changes in the BUB1B gene may also exist, but further research and testing are needed to establish their association.

Additional information on the BUB1B gene and related health conditions can be found in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide details on the genetic changes, clinical features, testing methods, and other relevant information for each condition.

It is important for healthcare professionals and individuals who undergo genetic testing to stay updated with the latest information and references available in these scientific databases to accurately diagnose and manage health conditions associated with changes in the BUB1B gene.

Mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic disorder characterized by abnormal numbers of chromosomes in each cell, commonly referred to as aneuploidy. This syndrome causes a variegated distribution of aneuploidy, meaning that different cells may have different chromosomal abnormalities.

During cell division, errors can occur in the distribution of chromosomes, leading to aneuploidy. In individuals with MVAS, this process is disrupted, resulting in a higher frequency of chromosomal aberrations.

The BUB1B gene, also called the BUBR1 gene, is associated with MVAS. Mutations in this gene can lead to impaired function of the protein it encodes, which is involved in the cell cycle checkpoint. When this protein is not functioning properly, errors in chromosome segregation can occur.

Diagnosis of MVAS typically involves genetic testing to identify mutations in the BUB1B gene. Other tests, such as chromosome analysis, may also be performed to determine the specific chromosomal changes present in an individual.

The Online Mendelian Inheritance in Man (OMIM) database provides further information on the BUB1B gene and related disorders. Additionally, scientific articles and references available on PubMed can provide more details on the clinical features and management of MVAS.

To date, a registry has been established for MVAS to catalog and collate information on affected individuals. This registry serves as a valuable resource for clinicians and researchers studying the syndrome.

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In conclusion, MVAS is a genetic syndrome characterized by a mosaic pattern of aneuploidy. Mutations in the BUB1B gene are a common cause of this condition, leading to impaired cell cycle checkpoint function. Genetic testing, along with additional diagnostic tests, can aid in the diagnosis of MVAS. Resources such as OMIM, PubMed, and the MVAS registry provide valuable information and references for further research and management of the syndrome.

Other disorders

In addition to mosaic variegated aneuploidy syndrome, BUB1B gene changes have been associated with several other disorders.

  • Cancer: Changes in the BUB1B gene can increase the risk of developing certain types of cancer, such as breast, ovarian, and colorectal cancer. These changes can impair the cell’s ability to properly maintain the integrity of the chromosomes, leading to an increased susceptibility to cancer.
  • Chromosome instability: BUB1B gene variants can disrupt the normal functioning of the mitotic checkpoint, causing defects in chromosome segregation and stability. This can result in aneuploidy, where cells have an abnormal number of chromosomes.
  • Genetic syndromes: Some individuals with changes in the BUB1B gene may develop genetic syndromes characterized by intellectual disability, developmental delay, and various physical abnormalities. These syndromes are often rare and may have different names depending on the specific gene variant involved.

It is important to note that BUB1B gene changes can have different effects on each individual, and the severity of the associated disorders can vary. Clinical testing and genetic counseling are recommended for individuals with a suspected BUB1B gene variant to obtain more information about their specific health risks and possible treatment options.

For additional resources on BUB1B gene-related disorders, the following scientific databases and health registries can provide further information:

  • PubMed: A comprehensive database of scientific articles and publications, which can provide more detailed information on the research and studies related to BUB1B gene changes and associated disorders.
  • OMIM: An online catalog of human genes and genetic disorders, which includes information on BUB1B gene variants and related diseases.
  • Genetic testing: Clinical genetic testing can help identify specific BUB1B gene changes and provide more information about the associated health risks.
  • References: Scientific articles and publications cited in this article provide additional information on BUB1B gene-related disorders and their clinical implications.

By accessing these resources and undergoing appropriate genetic testing, individuals and healthcare professionals can gain a better understanding of BUB1B gene-related disorders and make informed decisions regarding diagnosis and treatment.

Other Names for This Gene

This gene, also known as BUBR1, is associated with various health conditions and disorders. It has been extensively studied and has multiple names in scientific literature and databases. Some of the other names for this gene include:

  • BUB1 Mitotic Checkpoint Serine/Threonine Kinase B
  • BUB1B Mitotic Checkpoint Serine/Threonine Kinase B
  • MAD3/BUB1-Like Protein Kinase
  • hBUBR1
  • Cell Cycle Checkpoint Kinase BUBR1
  • Mitotic Checkpoint Kinase BUBR1
  • Mitotic Checkpoint Serine/Threonine Kinase BUBR1
  • Mitotic Checkpoint Kinase
  • Mad3l
  • BUB1B

These names are used interchangeably to refer to the same gene and are often listed in scientific articles, databases, and resources related to genetic health conditions. They are also used in genetic testing and clinical databases to identify changes or variants in this gene associated with specific diseases.

Additional Information Resources

For more information on the BUB1B gene and related genet, please refer to the following resources:

  • OMIM database (Online Mendelian Inheritance in Man): The OMIM database provides comprehensive information on genetic disorders, genes, and their associated clinical features. The entry for the BUB1B gene in the OMIM database includes information on the BUBR1-related disorders, such as mosaic variegated aneuploidy syndrome. Each entry includes a summary of the disorder, clinical features, gene variant names, and more.
  • PubMed database: PubMed is a scientific research database that includes a vast collection of articles from various medical and scientific journals. Searching for “BUB1B gene” on PubMed will lead to a list of articles that discuss the role of the BUB1B gene in various health conditions and diseases.
  • Genetic Testing Registry: The Genetic Testing Registry, maintained by the National Institutes of Health, provides information on genetic tests and laboratories that offer testing for specific genes and conditions. The registry includes information on tests for the BUB1B gene, testing laboratories, and associated conditions.
  • ClinVar database: ClinVar is a freely accessible database that catalogs genetic variants and their clinical significance. It includes information on BUB1B gene variants reported in individuals and their corresponding phenotypes. The database provides links to scientific articles and other resources for further information.

These resources can serve as valuable references for anyone seeking additional information on the BUB1B gene, its role in health and disease, and related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and management of various disorders. The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information for health care professionals and the general public. Here, we will explore some of the tests listed in the GTR that are relevant to the BUB1B gene.

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The BUB1B gene, also known as BUBR1, is responsible for producing a protein called BUBR1. This protein plays a vital role in cell division, specifically during the checkpoint that ensures accurate separation of chromosomes.

In individuals with changes or variants in the BUB1B gene, they may experience health issues and a predisposition to certain conditions. One such condition is the mosaic variegated aneuploidy syndrome (MVA), which is caused by mutations in the BUB1B gene. MVA is characterized by an abnormal number of chromosomes in various cells of the body, leading to diverse clinical manifestations.

The GTR lists several tests related to the BUB1B gene and its associated disorders. These tests provide valuable information about the presence of variants or changes in the BUB1B gene and can aid in the diagnosis and management of related conditions.

Some of the tests listed in the GTR for the BUB1B gene include:

  1. The BUB1B gene sequencing test: This test analyzes the DNA sequence of the BUB1B gene to identify any changes or variants that could be associated with health conditions.
  2. The BUB1B gene deletion/duplication analysis: This test specifically looks for larger changes in the BUB1B gene, such as deletions or duplications, which may also contribute to certain health conditions.

These tests utilize various techniques and technologies to analyze the BUB1B gene, including next-generation sequencing and polymerase chain reaction (PCR) methods. They provide valuable insights into the genetic makeup of individuals and help in making informed medical decisions.

It’s important to note that the GTR provides additional resources such as PubMed articles, OMIM database references, and related genes for each test listed. This ensures comprehensive and up-to-date information related to the BUB1B gene and its associated conditions.

In conclusion, the Genetic Testing Registry (GTR) offers a comprehensive catalog of tests related to the BUB1B gene and its associated disorders. These tests provide crucial information about the genetic makeup of individuals and aid in the diagnosis, management, and further research of various diseases. Health care professionals and the general public can rely on the GTR for accurate and up-to-date information on genetic testing.

Scientific Articles on PubMed

The BUB1B gene, also known as BUBR1, is located on chromosome 15. Variants in this gene can lead to various genetic disorders, including the rare condition known as mosaic variegated aneuploidy syndrome.

Scientific articles on PubMed provide a wealth of information on the BUB1B gene and its related disorders. Dr. Nazneen Rahman and her colleagues have conducted extensive research on this gene and its implications for health. Numerous articles are available on PubMed that discuss the role of BUB1B in genetic disorders, testing methods, and potential therapeutic interventions.

For each article, resources such as OMIM (Online Mendelian Inheritance in Man) are often cited. OMIM provides additional information on genetic disorders and the specific genes involved. The BUB1B gene is listed in OMIM with the associated diseases and clinical features.

The BUB1B gene is known to cause defects in the mitotic checkpoint, leading to errors in chromosome segregation during cell division. This can result in aneuploidy, which is the presence of an abnormal number of chromosomes in cells. The BUB1B gene plays a critical role in ensuring the proper alignment and separation of sister chromatids during cell division.

In addition to OMIM, other databases and registries such as the Genetic Testing Registry and the Human Gene Mutation Database provide comprehensive information on the BUB1B gene and its related conditions. These resources offer references to scientific articles, testing methods, and clinical guidelines.

Further research on the BUB1B gene and related genes is needed to fully understand the underlying mechanisms and develop targeted therapies for patients with BUB1B-related disorders. Scientific articles on PubMed are an invaluable source of information for researchers, clinicians, and individuals interested in this field of study.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource for information on genetic disorders and conditions. OMIM is a database that provides a curated collection of genes and diseases, and is widely used by researchers, healthcare professionals, and individuals interested in genetic health.

OMIM catalogs genes and diseases from scientific literature, incorporating information from a wide range of sources, including published articles, clinical tests and trials, and genetic databases. The database contains information on the genetic basis of diseases, as well as the clinical manifestations, inheritance patterns, and diagnostic testing for each condition.

The catalog is organized into specific gene entries, each of which provides detailed information on a particular gene and its associated diseases. The gene entries include the official gene symbol, gene name, chromosome location, and a summary of current knowledge about the gene’s function and role in disease.

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For each gene, OMIM provides a list of related diseases and conditions. This includes both Mendelian disorders, which are caused by changes in a single gene, and complex disorders, which result from interactions between multiple genes and environmental factors.

OMIM also includes information on genetic testing resources, such as laboratories that offer specific tests for gene variants associated with certain diseases. In addition, OMIM provides links to other related resources, such as the Genetic Testing Registry and PubMed, where additional information and scientific articles on the gene and its associated diseases can be found.

One example of a gene listed in the OMIM catalog is the BUB1B gene. Mutations in this gene can cause BUBR1 syndrome, a condition characterized by an increased risk of aneuploidy (abnormal numbers of chromosomes) and mosaic variegated aneuploidy syndrome (MVA). BUBR1 syndrome leads to checkpoint defects during cell division, resulting in chromosomal instability and a variety of health problems. (Rahman and Rahman, 2007)

In summary, the OMIM catalog provides a comprehensive and up-to-date resource for information on genes and diseases. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic health and related conditions.

Gene and Variant Databases

In the study of genetics, gene and variant databases play a crucial role in facilitating research, providing valuable information on various genes and their associated variants. These databases provide a comprehensive collection of genetic and genomic data, which can be utilized to further our understanding of diseases and their underlying mechanisms.

Chromosome specific databases:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on various genes and the associated clinical characteristics, inheritance patterns, and molecular mechanisms of diseases.
  • Genetests: Genetests is a publicly funded medical genetics information resource that provides up-to-date information on genetic tests offered worldwide. It includes information on genetic conditions, genes, testing laboratories, and genetic counselors.

Variant-specific databases:

  • dbSNP: The Single Nucleotide Polymorphism database (dbSNP) is a public repository that stores information on genetic variations, including single nucleotide polymorphisms (SNPs), small insertions/deletions, and structural variants.
  • ClinVar: ClinVar is a freely accessible database that collects and curates information on the relationships between genetic variants and human health. It includes data on variants of clinical significance as well as their interpretations.

Scientific databases:

  • PubMed: PubMed is a comprehensive database of biomedical literature. It provides access to abstracts and full-text articles on various topics, including genetics and genomics. Researchers can search for scientific papers to find valuable information related to their studies.
  • GeneCards: GeneCards is a searchable database that provides information on human genes, including their aliases, functions, associated diseases, and relevant scientific literature.

Checkpoint-related databases:

  • BUB1B Gene: The BUB1B gene, also known as BUBR1, is a gene involved in the spindle assembly checkpoint, which ensures the correct alignment of chromosomes during cell division. Mutations in this gene can lead to aneuploidy, a condition characterized by an abnormal number of chromosomes. The BUB1B Gene database provides additional information on this gene, including its role in health and disease.
  • Variegated Clinical Spectrum: The Variegated Clinical Spectrum Database is a collection of clinical descriptions and molecular genetic information on various conditions associated with mosaic changes in gene function.

These databases are valuable resources for researchers and clinicians alike, providing a wealth of information on genes, variants, and associated disorders. They can aid in the diagnosis and management of genetic conditions, as well as contribute to ongoing research in the field of genetics.

References

Additional resources for genetic testing:

Scientific articles and related information:

Note: The above articles and resources are listed for informational purposes and do not constitute medical advice. Genetic testing and clinical diagnosis should be performed by healthcare professionals using appropriate tests and guidelines.

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