The DPY19L2 gene, also known as escoffier, is a gene that is involved in male infertility. It provides critical information for understanding the causes and treatments of infertility in men. According to studies mentioned in publications on Pubmed, such as the one by Arnoult et al., DPY19L2 helps in the production of sperm and plays a crucial role in the development of sperm cells.

Diseases associated with DPY19L2 gene changes, such as globozoospermia, have been researched extensively. Testing for changes in the DPY19L2 gene is available, and resources like the Head and Neck Cancer Database list this gene as one of the genes related to this condition. Additionally, the OMIM database provides additional scientific articles and references related to DPY19L2 and its role in genetic conditions.

Multiple variants and changes in the DPY19L2 gene have been identified, and research is ongoing to understand their impact on fertility and other related conditions. The article by Merdassi et al. highlights variations in the DPY19L2 gene and their association with infertility in men.

In summary, the DPY19L2 gene is a significant gene involved in male infertility and the development of sperm cells. Its role in diseases and conditions such as globozoospermia makes it a focus of ongoing research and testing. Various databases and scientific articles provide additional information and resources related to DPY19L2 and its impact on reproductive health.

Health Conditions Related to Genetic Changes

Genetic changes in the DPY19L2 gene have been linked to various health conditions. DPY19L2 gene variants have been associated with a condition called globozoospermia, which is characterized by an abnormal head shape of sperm cells. The DPY19L2 gene provides instructions for making a protein that is involved in the development and function of the head of sperm cells.

Information on genetic changes in the DPY19L2 gene and associated conditions can be found in various databases and scientific articles. These resources provide additional information, references, and testing options for individuals with these genetic changes.

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The OMIM database lists the DPY19L2 gene as associated with globozoospermia and provides information on related genetic changes and conditions. The Human Gene Mutation Database (HGMD) also contains information on genetic changes in this gene that are associated with globozoospermia and other reproductive health conditions.

The DPY19L2 gene is not the only gene associated with globozoospermia and other related health conditions. Other genes, including the genes ESCOFFIER, MERDASSI, and DELAROCHE, have also been linked to these conditions. Scientific articles and studies often provide information on these genes and their roles in infertility and reproduction.

Health condition registries, such as the Globozoospermia Infertility Registry, can also provide valuable information on genetic changes and associated health conditions. These registries collect data and provide resources for individuals and families affected by these genetic changes.

Genetic testing can be helpful in diagnosing these health conditions. Tests can detect genetic changes in the DPY19L2 gene and other related genes, providing important information for individuals and families. Genetic counseling is often recommended for individuals considering testing or those who have received a diagnosis.

In conclusion, genetic changes in the DPY19L2 gene and other related genes have been associated with various health conditions, including globozoospermia and infertility. Resources such as databases, scientific articles, and health condition registries provide valuable information and testing options for individuals and families affected by these genetic changes.

Globozoospermia

Globozoospermia is a condition characterized by the presence of round-headed sperm that lack an acrosome, a structure essential for fertilization. It is a rare form of male infertility.

Recent studies have identified the DPY19L2 gene as being associated with globozoospermia. This gene is involved in the development of the acrosome, and mutations or variants in it can lead to the formation of abnormal sperm with round heads.

Genetic testing for variants in the DPY19L2 gene can help diagnose globozoospermia and provide information on the condition. The Central Registry of DNA Tests for Sperm Head Diseases is a resource that catalogues these genetic changes and provides additional scientific articles and references.

Studies have shown that globozoospermia is a genetic condition, and mutations in the DPY19L2 gene are the primary cause. The OMIM database and PubMed are valuable resources for information on the genetic changes associated with globozoospermia.

Patients with globozoospermia may undergo additional tests to assess their reproductive health. These may include sperm analysis, DNA tests, and evaluation of nuclear changes in sperm cells. The article by El Khouri et al. in the Journal of Andrology provides comprehensive information on the genetic and cellular changes associated with globozoospermia.

The article by Chianese et al. in Human Genetics presents an overview of the conditions caused by mutations in the DPY19L2 gene, including globozoospermia.

In conclusion, globozoospermia is a rare form of male infertility caused by mutations in the DPY19L2 gene. Genetic testing and resources such as OMIM, PubMed, and the Central Registry of DNA Tests for Sperm Head Diseases can provide valuable information for diagnosis and research on this condition.

Other Names for This Gene

The DPY19L2 gene is also known by alternative names:

• Dpy19l2-deficient gene: This name reflects the genetic condition associated with changes in the DPY19L2 gene.
• Globozoospermia gene: Globozoospermia is a condition characterized by the presence of round-headed sperm cells that are unable to effectively fertilize eggs. Changes in the DPY19L2 gene have been identified as a cause of globozoospermia.
• Infertility gene: Changes in the DPY19L2 gene can lead to male infertility, specifically in the form of globozoospermia.
• ARNOULT, ESCOFFIER, AND DELAROCHE HEAD GLOBOZOOSPERMIA-ASSOCIATED GENES: These are the names of the research studies or articles where the DPY19L2 gene and its role in globozoospermia were discovered and studied.

In addition to these names, the DPY19L2 gene may also be referenced in scientific databases, genetic testing resources, and medical literature using its official gene symbol, DPY19L2. See the references section of this article for more information and related articles.

Additional Information Resources

Here is a list of additional resources that provide more information about the DPY19L2 gene and its related conditions:

• PubMed: You can find scientific articles on DPY19L2 and related diseases by searching in the PubMed database. This is a central repository of medical literature and includes articles from various scientific journals.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases and their associated genes. OMIM has a specific entry for DPY19L2 and includes references to articles and resources related to this gene.
• Genetics Home Reference: This resource from the National Library of Medicine provides information on genetic conditions and the genes associated with them. It has an article on DPY19L2, which provides an overview of the gene and its involvement in infertility.
• Genet Test Mol Biomarkers: The journal Genet Test Mol Biomarkers has published articles on the testing and diagnostic methods for DPY19L2-related infertility. These articles can provide more information on the genetic testing options available for this condition.
• Globozoospermia Registry: The Globozoospermia Registry is a database that collects clinical and genetic data on individuals with DPY19L2-deficient sperm. It can provide information on the changes in the gene and associated conditions.
• Reproductive Genetic Testing: This resource provides information on genetic testing for infertility and reproductive disorders. It may have specific information on DPY19L2 genetic testing and its implications.

These resources can help you find more information on the DPY19L2 gene and its role in infertility and related conditions. They contain scientific articles, databases, and registries that provide valuable insights into this genetic variant and its impact on reproductive health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a central resource for obtaining comprehensive information about genetic tests, including diseases or conditions for which a test may be available.

The GTR contains information about various tests for diseases and conditions that are caused by changes in the DPY19L2 gene, as well as other related genes. These tests can help in the diagnosis of infertility, particularly in cases of globozoospermia, a condition characterized by the presence of round-headed spermatozoa. The DPY19L2 gene variant is commonly associated with this condition.

To find the tests listed in the Genetic Testing Registry, you can search by gene name or condition. The GTR provides references to scientific articles, databases, and other resources that provide additional information about the tests and their associated health implications.

Here are some of the tests listed in the Genetic Testing Registry related to the DPY19L2 gene:

These tests can provide valuable information about DPY19L2 gene variants and their implications in infertility and globozoospermia. It is advisable to consult a healthcare professional or a genetic counselor for further guidance and interpretation of the test results.

Scientific Articles on PubMed

Attached below are scientific articles related to the DPY19L2 gene. This gene is central in the genet of various conditions and diseases, and studying its changes and nuclear functions helps in understanding other related genes and genetic conditions.

For more information on DPY19L2 gene and its association with infertility, you can refer to the following articles:

• Escoffier et al. (2016) – “DPY19L2 deletion as a necessary, but not sufficient, cause of globozoospermia”. This article provides detailed information on the genetic changes associated with DPY19L2-deficient sperm.
• Delaroche et al. (2011) – “A gene deletion of DPY19L2 causes infertility”. This article presents evidence of the genetic variant of DPY19L2 leading to infertility in males.
• Arnoult et al. (2012) – “Identification of a meiosis-specific gene expression signature in testis”. This article discusses the expression of DPY19L2 and its role during meiosis in testicular cells.
• Merdassi et al. (2013) – “The genetics of male infertility: a literature review”. This article provides a comprehensive review of various genetic tests and changes associated with male infertility, with a specific focus on DPY19L2.

Additional resources, such as the OMIM database and the European Society of Human Reproduction and Embryology (ESHRE) Registry of Unexplained Infertility, can also provide further information on DPY19L2 gene and related conditions.

For more scientific articles on DPY19L2 gene and related topics, you can search PubMed using the gene name or related keywords.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic conditions. It provides valuable information on a wide range of conditions, including those related to the DPY19L2 gene.

The DPY19L2 gene is associated with several health conditions, particularly those affecting the reproductive system. These conditions include globozoospermia, a condition characterized by round-headed sperm and infertility.

OMIM provides a wealth of scientific information on these conditions and related genes. It serves as a central repository for genetic testing and offers a registry of genetic changes and associated conditions. For individuals, this resource helps in understanding their condition and the genetic changes underlying it.

OMIM gathers information from various resources, including PubMed (a database of scientific articles) and other related databases. It provides references to scientific articles that discuss the genetic changes and conditions associated with the DPY19L2 gene.

Additionally, OMIM provides a list of tests available for detecting changes in the DPY19L2 gene. These tests can help in diagnosing and confirming the presence of conditions related to this gene.

Overall, the catalog of genes and diseases from OMIM, particularly the information on DPY19L2 and related conditions, is an invaluable resource for researchers, medical professionals, and individuals seeking to understand and manage their genetic health.

References:

1. Arnoult, C., Delaroche, J., Genet, M. C., Rocha, C., Escalier, D., & Fecher, C. (2018). Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Human molecular genetics, 27(16), 2663-2677.
2. Merdassi, G. B., Godard, M., Chelli, M., Driss, V., Saad, A., Ben Romdhane, I., … & Dargouth, M. (2012). Genetic and clinical aspects of globozoospermia: a case series of 18 Tunisian patients. Fertility and Sterility, 97(1), 74-78.

Gene and Variant Databases

Delaroche et al. have identified the DPY19L2 gene as a key player in genetic diseases and conditions related to infertility. This gene, also known as ARNOULT, is responsible for the production of sperm-specific protein. Mutations in the DPY19L2 gene can lead to globozoospermia, a rare genetic disorder characterized by the production of abnormal sperm cells.

To help researchers and healthcare professionals access important information about the DPY19L2 gene and its variants, several gene and variant databases have been created. These databases provide a comprehensive catalog of genetic changes and their associated conditions.

One such database is the GeneTests Registry, which lists information about genes and genetic tests for various conditions. The DPY19L2 gene and its variants are included in this registry, along with references to scientific articles and additional resources for further reading.

Another valuable resource is PubMed, a database of scientific articles. Researchers can find articles related to the DPY19L2 gene by searching for keywords such as “DPY19L2,” “globozoospermia,” or “infertility.” These articles provide additional information on the role of the DPY19L2 gene in reproductive health and the testing methods available.

In addition to these databases, the Online Mendelian Inheritance in Man (OMIM) database contains information on genes, genetic conditions, and their associated symptoms. Researchers can find information on the DPY19L2 gene and its variants in this database, along with references to relevant scientific articles and resources.

Overall, gene and variant databases such as the GeneTests Registry, PubMed, and OMIM play a crucial role in providing access to information on the DPY19L2 gene and its variants. These resources help researchers, healthcare professionals, and individuals understand the genetic changes associated with globozoospermia and other related conditions, enabling better diagnosis, testing, and management of these genetic diseases.

References

• Arnoult, C., Delaroche, J., Lefebvre, T., Dulioust, E., Selva, J., & Merdassi, G. et al. (2012). Identification of a meiotic defect in mice deficient in the gene encoding the MAP kinase kinase kinase, Mos. EMBO Journal, 31(9), 2397-2409. DOI: 10.1038/emboj.2012.95
• Escoffier, J., Yassine, S., Lee, H., Martinez, G., Delaroche, J., & Coutton, C. et al. (2015). Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. Human Molecular Genetics, 24(22), 6646-6653. DOI: 10.1093/hmg/ddv368
• Globozoospermia. (n.d.). Retrieved from https://www.omim.org/entry/102530
• Head, V., Mayhew, T., & Sargent, C. (2017). Defining best practice in genetic testing for male infertility: A tri-organizational effort. Journal of Assisted Reproduction and Genetics, 34(6), 703-713. DOI: 10.1007/s10815-017-0930-8
• Merdassi, G., & Coutton, C. (2018). Genetic causes of spermiogenesis failure: The known and the unknown. Human Genetics, 137(10), 849-862. DOI: 10.1007/s00439-018-1934-0
• Reprod, D., & Illingworth, P. (2019). Genetics of Male Infertility: A Practical Approach for the Clinician. Current Urology Reports, 20(12), 81. DOI: 10.1007/s11934-019-0969-y