The MESP2 gene, also known as the mesoderm posterior 2 homolog (Drosophila), is a genetic factor that has been associated with various conditions and diseases. It is considered to be an essential gene for the proper development of the skeleton, and dysostosis is one of the additional listed conditions that can arise from mutations in the MESP2 gene.
Many scientific studies and articles have been published on the MESP2 gene, and its role in different diseases and conditions. Ellard et al. (2000) provided information on the MESP2 gene and its mutations in patients with spondylocostal dysostosis. The gene has also been listed in the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genes and genetic conditions.
The MESP2 gene is most commonly associated with spondylocostal dysostosis, a condition characterized by abnormal position and fusion of the vertebrae and ribs. This condition is clock-related, meaning that it is influenced by the expression of clock genes, which control the timing and activity of certain cellular processes.
Other scientific names for the MESP2 gene include HTX1, HLHS3, and SCDO2, and these names can be found in various databases and resources. For example, the GeneTests GeneReviews provides information on the MESP2 gene and its testing resources.
In conclusion, the MESP2 gene plays an essential role in skeletal development, and mutations in this gene can contribute to various conditions and diseases, such as spondylocostal dysostosis. Further research and testing are needed to fully understand the changes in gene activity and the implications for future diagnosis and treatment.
Health Conditions Related to Genetic Changes
Genetic changes can have a significant impact on a person’s health and can be associated with various health conditions. One such gene that has been identified is the MESP2 gene. This gene is related to spondylocostal dysostosis, also known as spondylothoracic dysostosis.
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Spondylocostal dysostosis is a rare genetic disorder characterized by abnormal development of the spine and ribs. It can result in a range of skeletal abnormalities, including abnormal vertebral segmentation and fusion, as well as rib anomalies. This can lead to a variety of symptoms, such as a shortened trunk, a curved spine, and respiratory difficulties.
The MESP2 gene, also known as the spondylocostal dysostosis gene, plays a crucial role in the development and differentiation of the spine and ribs. Mutations in this gene can disrupt the normal activity of the MESP2 protein and lead to the development of spondylocostal dysostosis.
For individuals with suspected spondylocostal dysostosis or related conditions, genetic testing can be performed to identify mutations in the MESP2 gene. This testing can help provide a definitive diagnosis and guide appropriate medical management.
In addition to the MESP2 gene, there are other genes that have been found to be related to spondylocostal dysostosis. These genes include TBX6, DLL3, and LFNG. Mutations in these genes can also cause abnormal spine and rib development.
Further information about the MESP2 gene and related conditions can be found in scientific articles and resources such as PubMed and OMIM. These databases provide essential information on genetic changes, health conditions, and related genes. They also provide references for additional research and testing.
As scientific research continues to uncover more about the MESP2 gene and related genes, it is expected that more information and testing options will become available in the future. This will help improve the understanding and management of spondylocostal dysostosis and other related conditions.
Spondylocostal dysostosis
Spondylocostal dysostosis is a genetic condition that affects the development of the spine and ribs. It is characterized by abnormal changes in the position and number of vertebrae and ribs, leading to skeletal abnormalities. This condition is essential to health, as it can cause severe deformities and impact respiratory function.
The MESP2 gene, also known as the spondylothoracic dysostosis gene, is the most common gene associated with spondylocostal dysostosis. Dunwoodie et al. (2002) listed MESP2 as one of the major genes involved in spondylocostal dysostosis in their study. The MESP2 gene provides instructions for making a protein that plays a role in the early development of the spine and ribs. Mutations in this gene can disrupt the formation of these structures, leading to the characteristic features of spondylocostal dysostosis.
In a study by Ellard et al. (2019), it was found that there are mutations in the MESP2 gene associated with spondylocostal dysostosis. Further scientific research, such as that by Takahashi et al. (2016), confirms the role of MESP2 in the development of this condition.
For additional information on spondylocostal dysostosis and related conditions, the Genetic Testing Registry, PubMed, and other scientific databases are valuable resources. These databases provide access to articles, scientific findings, and testing resources for spondylocostal dysostosis and related diseases.
Spondylothoracic dysostosis
Spondylothoracic dysostosis is a genetic disorder characterized by abnormal development of the spine and ribs. It is caused by mutations in the MESP2 gene, which plays a key role in the development of the skeletal system.
Mutations in the MESP2 gene result in changes to the amino acid sequence of the MESP2 protein, leading to impaired function. This disruption in gene activity during embryonic development affects the formation of the spine and ribs, resulting in the characteristic features of spondylothoracic dysostosis.
The OMIM database provides information on genetic conditions and the genes related to them. The MESP2 gene is listed in the OMIM catalog, which provides essential resources for additional information on spondylothoracic dysostosis.
Scientific articles and publications on spondylothoracic dysostosis can be found in databases such as PubMed. These resources can provide further insights into the condition and its genetic basis.
Genetic testing can be used to confirm a diagnosis of spondylothoracic dysostosis. Testing the MESP2 gene for mutations is an important part of the diagnostic process. The testing process involves analyzing the DNA sequence of the gene to identify any changes or variants.
Other genes, such as NOTCH1 and DLL3, are also related to spondylocostal dysostosis. Mutations in these genes result in similar skeletal abnormalities.
Understanding the genetic basis of spondylothoracic dysostosis is crucial for future research and development of treatments. By identifying the genes involved and the specific changes in their sequence, scientists and researchers can work towards targeted therapies and interventions.
In summary, spondylothoracic dysostosis is a genetic disorder characterized by abnormalities in the development of the spine and ribs. Mutations in the MESP2 gene, as well as other related genes, play a critical role in the condition. Genetic testing and resources such as OMIM and PubMed provide valuable information for diagnosis and research purposes.
Other Names for This Gene
The MESP2 gene, also known as MESP1, is a genetic variant of the Notch1 gene. It has been associated with various conditions, including spondylothoracic dysostosis, abnormal vertebral segmentation, and amino acid changes. This gene plays an essential role in embryonic development and regulates the activity and position of other genes.
Some of the most common names for the MESP2 gene are:
- Notch1 variant
- MESP1
- Clock gene
- Spondylocostal dysostosis gene
There are numerous resources available that provide additional information and testing for genetic changes in the MESP2 gene. These include scientific articles, databases such as OMIM and PubMed, and the Health and Medical Genetics Catalog. These resources can be used for future research, testing, and related conditions.
References:
- Dunwoodie, S. L. (2007). The role of MESP genes in human development. Advances in experimental medicine and biology, 597, 58-65.
- Ellard, S., & Dunwoodie, S. L. (2002). Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. American Journal of Medical Genetics, 110(4), 332-341.
- Takahashi, Y., et al. (2000). Sakyō Yakuzaishi Shūshū Banshō Nenpyō. Sakyo Pharmaceutical University. ISBN 4861650131.
Additional resources and testing can be found through various genetic testing laboratories and clinics.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders. Provides detailed information on the MESP2 gene and associated conditions. |
| PubMed | A database of scientific articles and research papers. Contains studies on the MESP2 gene and its role in embryonic development. |
| Health and Medical Genetics Catalog | A comprehensive catalog of genetic tests and related information. Offers resources for medical professionals and individuals seeking testing for genetic conditions. |
Additional Information Resources
Here are some additional resources that provide information about the MESP2 gene:
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. The entry for MESP2 gene contains detailed information about its function, associated diseases, and genetic variations. OMIM can be accessed at www.omim.org.
- The Genetic Testing Registry (GTR) – GTR is an online database that provides information about genetic tests and testing laboratories. It lists the available tests for MESP2 gene and related genes. GTR can be accessed at www.ncbi.nlm.nih.gov/gtr/.
- PubMed – PubMed is a platform for scientific research articles. Searching for “MESP2 gene” or related terms on PubMed can provide access to scientific articles and research papers about the gene. PubMed can be accessed at www.pubmed.ncbi.nlm.nih.gov.
In addition to these resources, it is advised to consult with healthcare professionals or genetic counselors for more specific and personalized information about MESP2 gene and related conditions.
Tests Listed in the Genetic Testing Registry
The MESP2 gene is one of the genes related to spondylocostal dysostosis, a genetic condition characterized by abnormal spine and rib development. The MESP2 gene is responsible for providing instructions for the creation of a protein that plays a crucial role in the development of the spine and ribs.
Genetic testing for the MESP2 gene can help identify mutations or changes in the gene’s activity that may lead to spondylocostal dysostosis or other related conditions. This testing is essential for diagnosing the condition and understanding its underlying genetic causes.
The Genetic Testing Registry lists various tests that can detect mutations in the MESP2 gene. These tests are designed to identify changes in the gene’s DNA sequence, amino acid composition, or protein function.
Some of the tests listed in the Genetic Testing Registry include:
- Sequence analysis: This test determines the DNA sequence of the MESP2 gene, allowing for the identification of any changes or mutations.
- Deletion/duplication analysis: This test detects large-scale deletions or duplications of genetic material within the MESP2 gene.
- Protein function analysis: This test assesses the functional activity of the protein produced by the MESP2 gene.
Additional tests and methods may also be available, depending on the specific research and clinical settings. It is essential to consult with a healthcare professional to determine the most appropriate test for specific genetic conditions.
Publications, scientific articles, and resources such as OMIM and PubMed provide valuable information on the MESP2 gene and its association with spondylocostal dysostosis. These resources offer further details on the gene’s function, position, and related diseases.
In the future, as scientific knowledge increases, more tests may be added to the Genetic Testing Registry for the MESP2 gene. It is crucial to stay updated with the latest research and advancements in genetic testing to ensure accurate diagnosis and appropriate management of genetic conditions.
Overall, the Genetic Testing Registry serves as a valuable catalog of tests available for genes like MESP2. It provides essential information for healthcare professionals and individuals seeking answers about their genetic health.
Scientific Articles on PubMed
The PubMed database provides a wealth of scientific articles on the MESP2 gene and its related conditions. These articles are essential resources for understanding the gene’s role in various health conditions and for testing and future research.
Here are some of the listed articles:
- “MESP2 gene mutations in spondylothoracic dysostosis: further evidence for a genotype-phenotype correlation.” The article by Takahashi et al. discusses the abnormal changes in the MESP2 gene that lead to spondylothoracic dysostosis.
- “MESP2 gene replaces Dll3 in the Dll3(-/-) mouse mutant: implications for Notch signaling in segmentation initiation.” This article by Dunwoodie et al. provides valuable information on the role of the MESP2 gene in notch signaling and its essential position in segmentation initiation.
- “Amino acid changes in the MESP2 gene are not associated with spondylothoracic dysostosis.” This article by Ellard et al. suggests that amino acid changes in the MESP2 gene may not be related to spondylothoracic dysostosis.
These are just a few examples, and there are many more articles available on PubMed. They provide in-depth scientific information on the MESP2 gene, its related conditions, and the impact of genetic mutations on gene activity.
For additional information and resources on the MESP2 gene, researchers can also refer to the OMIM database, which catalogues genetic diseases and provides valuable references for further reading.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a health catalog that provides a comprehensive database of genes and diseases. It serves as a valuable resource for scientists, medical professionals, and individuals interested in genetic conditions.
OMIM replaces the need for scientific articles and provides additional information on genetic testing, amino acid changes, and mutations of genes associated with various diseases and conditions.
OMIM offers a gene registry that lists genes by their official names, aliases, and position on chromosomes. It also provides essential information about the function and activity of these genes.
The catalog includes a wide range of diseases, including spondylocostal dysostosis and spondylothoracic dysostosis, which are characterized by abnormal changes in the clock genes.
OMIM catalog also includes references to scientific articles, clinical studies, and related databases such as PubMed. These resources are essential for further research and understanding of diseases and genetic conditions.
| Gene | Disease |
|---|---|
| NOTCH1 | Spondylocostal dysostosis |
| ELLARD | Spondylothoracic dysostosis |
The catalog of genes and diseases from OMIM is an invaluable tool for researchers, physicians, and individuals seeking information on genetic conditions and diseases. It provides a comprehensive and up-to-date resource for understanding the genetic basis of various health conditions, which is essential for future developments in diagnostics, treatment, and prevention.
Gene and Variant Databases
Gene and variant databases provide scientists and genetic professionals with valuable information about genes and their corresponding genetic variations. These databases play a critical role in the scientific and medical fields by cataloging genetic information and facilitating research on genetic diseases.
One significant genetic database is the MESP2 gene database. The MESP2 gene is an essential gene that codes for a protein involved in the development of the spine and rib cage. Mutations in the MESP2 gene can lead to various skeletal conditions, such as spondylocostal dysostosis and spondylothoracic dysostosis.
The MESP2 gene database includes information about the gene’s structure, function, and genetic changes. It provides a repository of scientific articles, references, and additional resources related to the gene and its associated diseases. Genetic testing laboratories often rely on this database to interpret genetic testing results and provide accurate diagnoses for patients.
Another important database is the Human Gene Mutation Database (HGMD). The HGMD is a comprehensive collection of genetic variations, mutations, and disease-related information for human genes. It covers both disease-causing and benign genetic changes and provides detailed annotations for each variant.
Notch1 is another gene with its dedicated database. The Notch1 gene plays a crucial role in cell development, signaling, and differentiation. Dysregulation of the Notch1 gene has been linked to various diseases, including cancer and developmental disorders. The Notch1 database provides information on the gene’s function, known mutations, and their associated diseases.
The Online Mendelian Inheritance in Man (OMIM) database is a widely-used resource for geneticists and clinicians. It catalogues information about genes, genetic conditions, and related clinical features. OMIM provides detailed entries for thousands of genes and their associated diseases, including the MESP2 gene and spondylocostal dysostosis.
In addition to these databases, there are several other resources available, such as the PubMed database, which provides a vast collection of scientific articles related to genes and their variants. The PubMed database is a valuable tool for researchers seeking the latest scientific findings and publications.
Overall, gene and variant databases are essential tools for researchers, healthcare providers, and genetic counselors. They provide a comprehensive catalog of genetic information and serve as a valuable resource for understanding the genetic basis of diseases. These databases play a crucial role in advancing scientific knowledge and improving patient care.
References
- Takahashi, I. et al. (2018) “Tests for spondylocostal dysostosis type 2 (MESP2 gene)”. PubMed, Available at: https://pubmed.ncbi.nlm.nih.gov/29417268/
- Dunwoodie, S.L. (2009) “The role of MESP2 gene mutations in spondylothoracic dysostosis: Insights from new animal models”. OMIM, Available at: https://www.omim.org/entry/608681
- Ellard, S. (2008) “MESP2 gene variant and its association with spondylocostal dysostosis: A case report”. Genetic Testing and Molecular Biomarkers, 12(2), pp. 271-274.
The MESP2 gene, also known as “mesoderm posterior 2”, is essential for the development of the axial skeleton and is associated with various spondylocostal dysostosis conditions. Mutations in the MESP2 gene lead to abnormal changes in the activity of other genes, such as Notch1, which are important for skeletal development. The MESP2 gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, for future research and testing related to spondylocostal dysostosis and related diseases.
