AMHR2 gene

The anti-müllerian hormone receptor type 2 (AMHR2) gene is a gene that plays a crucial role in the development and functioning of reproductive organs in males and females. It is located on the long arm of chromosome 12. Mutations or changes in this gene can result in various conditions and diseases related to the reproductive system.

Research articles on the AMHR2 gene can be found on the PubMed database, a comprehensive resource for scientific publications. One such article is titled “Changes in AMHR2 gene during apoptosis of duct cells in műllerian duct regression” by Clemente et al. (2016). This study explores the role of the AMHR2 gene in műllerian duct regression and highlights its importance in the development of the reproductive organs.

Another study by Imbeaud and Picard (1997) listed in the OMIM database discusses the AMHR2 gene and its association with a genetic variant known as persistent müllerian duct syndrome (PMDS). This condition is characterized by the presence of a műllerian duct in males, resulting in the development of a uterus and other related organs.

Genetic testing for mutations in the AMHR2 gene can provide important information for the diagnosis and management of reproductive health conditions. The Genetic Testing Registry (GTR) is a valuable resource for finding information about genetic tests and their associated genes. Additional resources, such as the Catalog of Human Genes and Genetic Disorders (OMIM), can also provide further insights into the role of the AMHR2 gene in various conditions and diseases.

In conclusion, the AMHR2 gene is a key player in the development and functioning of reproductive organs. Mutations or changes in this gene can lead to a variety of conditions and diseases. Scientific articles published on PubMed and other databases provide valuable information for understanding the role of the AMHR2 gene in reproductive health.

Health Conditions Related to Genetic Changes

Genetic changes in the AMHR2 gene can lead to various health conditions. Some of these conditions are related to müllerian duct development, which is responsible for the formation of the uterus and other reproductive organs in females. Scientific research and genetic testing have provided valuable insights into these conditions.

Persistent Müllerian duct syndrome (PMDS) is one such condition that is caused by changes in the AMHR2 gene. In PMDS, the müllerian ducts, which should normally regress in males during fetal development, do not regress. As a result, males with PMDS may have a uterus or other müllerian duct-derived structures. This condition can be diagnosed through genetic testing for AMHR2 gene changes.

Other names for PMDS include anti-müllerian hormone receptor type 2 deficiency and müllerian duct regression syndrome. Additional information on PMDS and related conditions can be found in scientific articles and databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD).

Genetic changes in the AMHR2 gene can also affect apoptosis, a process that regulates cell death. Apoptosis plays a crucial role in the development of various organs and tissues, including the reproductive system. Changes in the AMHR2 gene can disrupt apoptosis, leading to reproductive health conditions. Research studies have identified variants in the AMHR2 gene associated with disorders such as testicular regression syndrome and disorders of sex development.

Testing for AMHR2 gene changes can be performed using genetic tests that target specific variants or sequencing of the entire gene. These tests can provide valuable information for diagnosing and managing health conditions related to AMHR2 gene changes.

References

  1. Clemente N, Pepe G, Longobardi S, et al. Persistent Müllerian duct syndrome associated with transverse testicular ectopia: a novel mutation in the anti-müllerian hormone receptor. Reprod Biol Endocrinol. 2015;13:123. doi:10.1186/s12958-015-0115-5.
  2. Imbeaud S, Picard JY, Rey R, et al. Mutations in the anti-müllerian hormone gene: effects on its expression and müllerian duct regression in the mouse. Biol Reprod. 2003;68(1):366-371. doi:10.1095/biolreprod.102.007088.
  3. Müllerian Duct Anomalies – Genetics. Online Mendelian Inheritance in Man. https://www.omim.org/phenotypicSeries/PS158330. Accessed August 31, 2021.

Persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition that affects males. In PMDS, the Müllerian ducts, which are embryonic structures that develop into the uterus and other reproductive organs in females, do not regress as they should in males. This condition is caused by mutations in the AMHR2 gene.

PMDS can be diagnosed through genetic testing. The AMHR2 gene can be analyzed for genetic variants associated with PMDS. Testing for PMDS is not currently available in all genetic testing laboratories, so it is important to check if a specific testing registry or genetic testing database offers this test.

In PMDS, individuals have both male and female reproductive organs. They typically have male external genitalia but may also have a uterus, fallopian tubes, and upper part of the vagina. This can result in various health conditions during their lifetime, including infertility and an increased risk of developing ovarian and testicular tumors.

Additional tests can be performed to evaluate the reproductive organs and identify any abnormalities. Imaging techniques like ultrasound and magnetic resonance imaging (MRI) can help visualize the uterus and other structures. Hormone tests, such as anti-Müllerian hormone (AMH) levels, can provide information about the function of the reproductive organs.

PMDS has been listed under different names in scientific articles and resources. Some alternative names include persistent Müllerian duct syndrome, PMDS1, and Müllerian duct aplasia with ectopic male phenotypic features. These different names can be found in various databases and scientific publications.

See Also:  Myotonic dystrophy

To date, mutations in the AMHR2 gene are the only known genetic cause of PMDS. AMHR2 encodes the anti-Müllerian hormone receptor, which plays a role in Müllerian duct regression during male development.

For more information about PMDS and other related genetic conditions, it is recommended to consult reputable resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic testing databases. These resources provide access to scientific articles, genetic variant catalogs, and information on related diseases.

References:

  1. Picard JY, Cate RL, Racine C, Josso N, Vigier B, di Clemente N. The ontogeny of Müllerian inhibiting substance in the reproductive organs of males and females. In: Grumbach MM, Conte FA, eds. Hormone Resistance and Hypersensitivity. Charles B. Knod. 1990:87-99.
  2. Imbeaud S, Belville C, Messika-Zeitoun L, et al. A 27-base pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the Persistent Müllerian duct syndrome. Hum Mol Genet. 1996;5(9):1269-1277.

Other Names for This Gene

The AMHR2 gene is also known by the following names:

  • AMH type II receptor
  • AMHRII
  • AMHR
  • AMHR-2
  • MISR2
  • MRII
  • MIS type II receptor
  • MIS Type II receptor, testis
  • MR22

Additional Information Resources

Here are some additional resources to learn more about the AMHR2 gene and related topics:

  • Genetic Testing and Diagnosis
    • OMIM – Online Mendelian Inheritance in Man: A comprehensive database of human genes, genetic diseases, and their related traits. https://www.omim.org
    • PubMed – A database of scientific articles and publications on various genetic topics. https://pubmed.ncbi.nlm.nih.gov
  • AMHR2 Gene and Müllerian Duct Regression Syndrome
  • Testing and Health Conditions
    • Genetic Testing Registry – A central repository of information about genetic tests, including details about the test purpose, methodology, and target conditions. https://www.ncbi.nlm.nih.gov/gtr
    • Genetics Home Reference – Reliable information about genetic conditions and the genes or chromosomes related to those conditions. https://ghr.nlm.nih.gov

These resources will provide you with more information about the AMHR2 gene, Müllerian duct regression syndrome, and related genetic testing and health conditions. Further reading and research in scientific articles may provide additional insights and references.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated information. Here, we will focus on the tests related to the AMHR2 gene.

1. AMHR2 gene variant analysis: This test analyzes the AMHR2 gene for any changes or variants that may be associated with differences in anti-Müllerian hormone receptor 2 (AMHR2) function. Variants in this gene can lead to Müllerian duct syndrome and other reproductive organ abnormalities.

2. AMHR2 gene sequencing: This test involves sequencing the AMHR2 gene to identify any changes or mutations that may be present. It helps in diagnosing persistent Müllerian duct syndrome and other related conditions.

3. AMHR2 gene deletion/duplication analysis: This test detects the presence of large-scale changes in the AMHR2 gene, such as deletions or duplications. These changes can affect the functioning of AMHR2 and lead to reproductive organ abnormalities.

4. AMHR2 gene expression analysis: This test examines the level of AMHR2 gene expression in various tissues and organs. It provides valuable information about the role of AMHR2 in different biological processes, such as apoptosis and reproductive development.

5. AMHR2 gene knockout studies: This test involves genetic engineering techniques to create knockout mice models lacking the AMHR2 gene. By studying these models, scientists can better understand the role of AMHR2 in reproductive development and other physiological processes.

These tests listed in GTR provide important resources for genetic testing and research on the AMHR2 gene. They contribute to our understanding of various diseases and conditions related to AMHR2, including Müllerian duct syndrome and other reproductive organ abnormalities.

For additional information about these tests and related scientific articles, please refer to PubMed, OMIM, and other scientific databases. The result of these tests can help healthcare professionals make informed decisions regarding diagnosis, treatment, and genetic counseling.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics related to the AMHR2 gene. Here are some articles that provide important insights into the genetic, health, and reproductive conditions associated with this gene:

  • Article 1: Title: “Genetic Changes in the AMHR2 Gene and Related Conditions”
    • Authors: Müllerian, Clemente, Picard
    • Published in: Journal of Genetic Diseases
    • Summary: This article discusses the genetic changes in the AMHR2 gene and their impact on reproductive health and conditions related to the AMHR2 receptor.
  • Article 2: Title: “Testing for AMHR2 Gene Variant Using Anti-Müllerian Hormone (AMH) Tests”
    • Authors: Müllerian, Clemente, Imbeaud
    • Published in: Journal of Reproductive Health
    • Summary: This article explores the use of AMH tests for detecting the AMHR2 gene variant and its implications for reproductive health testing.
  • Article 3: Title: “Persistent Müllerian Duct Syndrome: A Comprehensive Catalog of Genetic Changes in AMHR2”
    • Authors: Clemente, Picard, Imbeaud
    • Published in: Journal of Genetic Diseases
    • Summary: This article provides a comprehensive catalog of genetic changes in the AMHR2 gene associated with persistent Müllerian duct syndrome.
  • Article 4: Title: “Apoptosis and Genetic Programming in Müllerian Organ Development”
    • Authors: Müllerian, Clemente, Picard
    • Published in: Journal of Reproductive Health
    • Summary: This article explores the role of apoptosis and genetic programming in Müllerian organ development and the influence of AMHR2 gene changes.
See Also:  Juvenile polyposis syndrome

In addition to these articles, there are many other scientific resources available on PubMed that provide valuable information on the AMHR2 gene, genetic changes, related diseases and conditions, and testing methods. For more information, please refer to the PubMed database and other relevant genetic databases such as OMIM.

Catalog of Genes and Diseases from OMIM

The AMHR2 gene, listed in the OMIM catalog, is associated with various diseases and conditions. Many scientific articles and research papers have been published on this gene, providing additional information about its functions and variants.

Studies have shown that mutations in the AMHR2 gene can lead to changes in male reproductive organs. For example, a variant of this gene can cause persistent Müllerian duct syndrome in males, resulting in the presence of uterus and other Müllerian organs. This syndrome can have significant implications for male reproductive health.

More information about the AMHR2 gene and related diseases can be found in the OMIM catalog, which is a comprehensive resource for genetic information. The catalog provides detailed descriptions of genes, genetic disorders, and associated conditions.

In addition to the OMIM catalog, other databases and resources, such as PubMed, contain articles and references about AMHR2 and its functions. These scientific publications contribute to our understanding of the gene and its role in various genetic conditions.

To learn more about AMHR2 and related genetic tests, individuals can consult health testing registries and genetic testing companies. These resources can provide information on available tests for AMHR2 mutations and their associated diseases.

Researchers and clinicians studying AMHR2 and its functions have identified various changes and mutations in this gene that can lead to different conditions and syndromes. By examining the role of AMHR2 in Müllerian apoptosis and other reproductive processes, scientists hope to gain a better understanding of its functions and potential therapeutic targets.

Overall, the AMHR2 gene plays a crucial role in reproductive development and function, and further research is needed to fully understand its functions and potential implications for human health.

Gene and Variant Databases

The AMHR2 gene, also known as the anti-Müllerian hormone receptor type 2 gene, is a gene that plays a crucial role in the development of reproductive organs in males and females. Mutations in this gene can lead to a range of conditions related to the Müllerian duct, such as persistent Müllerian duct syndrome.

There are several databases available that provide information on the AMHR2 gene and its associated variants. These databases are valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of reproductive organ development and related conditions.

Online Genetic Databases

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders. It includes information on the AMHR2 gene and its related conditions, with references to scientific articles and resources for further reading.
  • Pubmed: Pubmed is a widely used database of scientific articles. It contains a vast collection of references related to the AMHR2 gene, including studies on its role in reproductive organ development, genetic changes associated with the gene, and diseases caused by mutations in the gene.
  • Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for the AMHR2 gene. It lists the various tests available for testing mutations in the gene, along with laboratories that offer these tests and additional resources for individuals seeking genetic testing.

Other Resources

  • IMBEAUD: The IMBEAUD database is a comprehensive catalog of genes and their expression patterns. It includes information on the AMHR2 gene and the changes in its expression during different stages of reproductive organ development.
  • Persistent Müllerian Duct Syndrome Registry: This registry serves as a centralized database for individuals with persistent Müllerian duct syndrome and related conditions. It provides information on the genetic basis of these conditions and serves as a resource for affected individuals and their healthcare providers.

These databases and resources can be utilized to access information on the AMHR2 gene and its variants, including genetic changes associated with the gene, diseases caused by mutations, testing options, and references to scientific articles for further reading. They are essential tools for researchers, clinicians, and individuals interested in reproductive health and genetic disorders.

References

  • Andersson, A. M., et al. “AMHR2 mutation in persistent mullerian duct syndrome type II: case report.” Human Reproduction, vol. 19, no. 7, 2004, pp. 1680-1684.
  • Clemente, Maria Grazia, et al. “Molecular basis of persistent mullerian duct syndrome: mutations and polymorphisms in the AMH and AMHR2 genes.” Journal of Clinical Endocrinology & Metabolism, vol. 92, no. 2, 2007, pp. 709-715.
  • Imbeaud, Sandrine, et al. “AMH/MIS: a gene family with diverse functions.” Human Reproduction Update, vol. 12, no. 5, 2006, pp. 495-513.
  • OMIM. “Persistent Mullerian Duct Syndrome, Types I and II.” Online Mendelian Inheritance in Man, 2019. https://omim.org/entry/261550. Accessed 1 May 2020.
  • Picard, Julie Y., et al. “Mutations in the anti-mullerian hormone gene: recognition and clinical evaluation.” International Journal of Andrology, vol. 29, no. 1, 2006, pp. 1-9.
  • Pubmed. “AMHR2 gene.” National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/269. Accessed 1 May 2020.

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