Chromosome 8 – Austra Health

Chromosome 8 is one of the 23 pairs of chromosomes in the human body. It is a normal part of the genome and carries genetic information that is essential for the development and function of the body’s cells. However, abnormalities in chromosome 8 can lead to various conditions and disorders.

One example is the 8p11 syndrome, also known as the rare chromosomal disorder. This condition is caused by changes in the size or structure of chromosome 8. It is characterized by developmental delays, intellectual disabilities, and various physical abnormalities.

In addition to genetic disorders, chromosome 8 is also involved in the development of certain types of cancers, such as acute myeloid leukemia. This type of leukemia is caused by specific genetic changes, such as translocations, that affect the chromosomes in the body.

Research conducted by the NIH and other scientific resources has identified several genes on chromosome 8 that are involved in different health conditions. For example, the TRPS1 gene on chromosome 8 is associated with trichorhinophalangeal syndrome, a rare genetic disorder characterized by abnormalities of the hair, face, and bones.

The RAD21 gene on chromosome 8 is involved in the binding of proteins to chromosomes and plays a role in maintaining the integrity of the genome. Mutations in this gene can lead to abnormal chromosome attachments and contribute to the development of certain cancers.

Overall, chromosome 8 is an important part of the human genome, and abnormalities in this chromosome can have significant effects on health and development. Further research is needed to fully understand the role of chromosome 8 in various conditions and to develop targeted treatments for individuals affected by chromosomal abnormalities.

Health Conditions Related to Chromosomal Changes

Chromosomal changes in chromosome 8 can lead to various health conditions. These changes can occur as a result of genetic mutations, translocations, or other alterations in the structure of the chromosome. Some of the health conditions related to chromosomal changes in chromosome 8 include:

Trisomy 8: Trisomy 8 is a condition in which there is an extra copy of chromosome 8 in the body’s cells. This condition can cause various developmental and intellectual disabilities.
8p11 myeloproliferative syndrome: This syndrome is a rare form of leukemia that is caused by rearrangements of chromosomes, specifically involving the 8p11 region. It is characterized by abnormal enlargement of certain blood cells.
Trichorhinophalangeal syndrome type II: This genetic disorder is caused by mutations in the TRPS1 gene, located on chromosome 8. It affects the development of bones, hair, and other features of the body.
Acute myeloid leukemia (AML): Certain genetic abnormalities involving chromosome 8, such as translocations, can be found in some cases of AML. These abnormalities can affect the function of genes related to cell growth and division.
Lymphoma: Chromosomal changes in the 8p11 region have been associated with certain types of lymphoma, a cancer that affects the lymphatic system.

These are just a few examples of the health conditions related to chromosomal changes in chromosome 8. Further scientific research is needed to fully understand the impact of these changes on human health. The National Institutes of Health (NIH) and other resources provide additional information on these conditions for those who are interested in learning more.

References:

Genet Med. 2000 Jan-Feb;2(1):2-13. doi: 10.1097/00125817-200001000-00002. PMID: 11336400. Chromosomal abnormalities: current resources and US laboratories offering cytogenetic testing.
Leukemia. 2000 May;14(5):816-25. doi: 10.1038/sj.leu.2401746. PMID: 10803516. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma.
Am J Med Genet A. 2010 Nov;152A(11):2724-6. doi: 10.1002/ajmg.a.33509. PMID: 20949516. The role of chromosome 8p23.1 haploinsufficiency in trichorhinophalangeal syndrome type I and in 8p23.1-pter deletions involving TRPS1.
Cancer Genet Cytogenet. 1993 Feb;65(2):91-4. doi: 10.1016/0165-4608(93)90395-h. PMID: 8443159. Pearson et al. report on myeloid gene chimeras produced by chromosomal translocations.
Leukemia. 1999 Mar;13(3):504-5. doi: 10.1038/sj.leu.2401340. PMID: 10086775. Oscier et al. describe a variant RARA translocation in APL.

8p11 myeloproliferative syndrome

8p11 myeloproliferative syndrome is a disorder involved in the abnormal copy number changes of genes located on the short arm of chromosome 8 (8p). It is also known as 8p11 myeloproliferative disorder or 8p11 acute myeloid leukemia (8p11 AML). This syndrome is characterized by the fusion of genes in the 8p11 region, leading to the production of chimeric proteins that are responsible for the development of various myeloid malignancies, including myeloproliferative neoplasms and acute myeloid leukemia (AML).

One of the most common chromosomal abnormalities associated with 8p11 myeloproliferative syndrome is the fusion of the fibroblast growth factor receptor 1 (FGFR1) gene with various partner genes. This fusion results in the production of a chimeric protein with constitutive tyrosine kinase activity, which leads to uncontrolled cell growth and division. Other genes, such as TRPS1 and RAD21, have also been found to be involved in this syndrome.

It is likely that additional genetic and environmental factors contribute to the development of 8p11 myeloproliferative syndrome. Some studies have suggested that alterations in the genome, such as chromosomal translocations and changes in the size of chromosomes, may play a role in the development of this disorder. However, the exact causes and mechanisms underlying this syndrome are still not fully understood.

People with 8p11 myeloproliferative syndrome often have a variety of clinical features, including myeloid malignancies, lymphoma, trichorhinophalangeal syndrome, and various other developmental abnormalities. The severity and specific symptoms of the syndrome can vary widely among affected individuals.

Current scientific research on 8p11 myeloproliferative syndrome is focused on understanding the molecular mechanisms underlying the fusion of genes in the 8p11 region and the development of targeted therapies for this disorder. Several studies have identified potential therapeutic targets, such as the FGFR1 protein and other proteins related to cell growth and proliferation.

Overall, the 8p11 myeloproliferative syndrome is a complex and rare genetic disorder that involves abnormalities in multiple genes on chromosome 8. The fusion of these genes leads to the development of myeloid malignancies and other related conditions. Further research is needed to fully understand the underlying causes and mechanisms of this syndrome, as well as to develop effective treatments for affected individuals.

Citation:

Central pair formation and orientation by mutant mei1 disrupts meiotic chromosome pairing and synapsis.
Articles from Genome Resour – NLM Journals www.ncbi.nlm.nih.gov › … › Genome Res › v.1(1); 1991 • Problem with this citation? Retroorganization of pre-astrin and astrin to the pole proteins retrocedes Yehezkel et al., 2013

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a type of acute myeloid leukemia (AML) that is characterized by genetic abnormalities involving chromosome 16 and chromosome 8. It is one of the most common genetic abnormalities in AML, occurring in approximately 15-20% of cases.

The core binding factor (CBF) is a protein complex that plays a critical role in the regulation of gene expression. The CBF is composed of two subunits, CBFB and RUNX1. Mutations in either of these subunits can lead to the development of CBF-AML.

CBF-AML is often associated with additional chromosomal abnormalities, such as trisomy 8, which occurs in about 50% of cases. Trisomy 8 refers to the presence of an extra copy of chromosome 8 in the cells. Other chromosomal abnormalities that can be found in CBF-AML include inv(16)(p13;q22) and t(8;21)(q22;q22).

CBF-AML is more common in younger people and is associated with a more favorable prognosis compared to other types of AML. It is typically associated with certain clinical and laboratory features, such as a higher white blood cell count and a higher proportion of bone marrow blasts.

People with CBF-AML may also develop other related blood disorders, such as myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). These conditions are thought to be related to the abnormal functioning of the CBF proteins.

Recombinant 8 syndrome

Recombinant 8 syndrome is a type of chromosomal disorder that affects the eighth chromosome. It is characterized by a variety of physical and developmental abnormalities.

This condition can cause heart defects, delayed growth, and intellectual disabilities. There are several possible causes of recombinant 8 syndrome, including changes to the DNA sequence in the affected region of chromosome 8.

The core protein TRPS1 is one of the genes located on chromosome 8. It is thought to be involved in the regulation of bone development and other processes. For more information on recombinant 8 syndrome and related conditions, you can visit PubMed, a central resource for scientific articles.

One of the known changes that can cause recombinant 8 syndrome is a fusion of the TRPS1 gene with other genes, such as the MLLT10 gene, which is associated with acute myeloproliferative leukemia. This fusion disrupts the normal function of the TRPS1 gene and leads to the production of abnormal proteins.

Recombinant 8 syndrome is also associated with other chromosomal abnormalities, such as translocations involving chromosome 8. For example, in trichorhinophalangeal syndrome type II (TRPS II), there is an additional copy of a region on chromosome 8 fused with another chromosome.

Studies have shown that recombinant 8 syndrome occurs more frequently in people with certain health conditions, such as acute lymphoma and myeloid leukemia. The size of the changes in the affected region of chromosome 8 can vary, resulting in different manifestations of the condition.

Overall, recombinant 8 syndrome is a complex genetic disorder that involves changes in multiple genes on chromosome 8. Further research is needed to fully understand the causes and mechanisms underlying this condition.

Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II is a genetic condition caused by changes in the TRPS1 gene located on chromosome 8. It is a rare disorder that affects various parts of the body.

Trichorhinophalangeal syndrome type II is characterized by several physical abnormalities, including sparse hair, a pear-shaped nose, and cone-shaped epiphyses in the fingers and toes. Other features may include delayed development, intellectual disability, and skeletal malformations.

TRPS1 is a transcription factor involved in the regulation of other genes. It binds to specific DNA sequences and helps control the activity of these genes. Changes in the TRPS1 gene can disrupt its normal function and lead to the signs and symptoms of Trichorhinophalangeal syndrome type II.

The TRPS1 gene is located on the long arm of chromosome 8, specifically in the 8q24.12 region. This region also contains several other genes and genetic elements that may play a role in the development of other conditions, such as acute myeloproliferative syndrome and certain cancers.

Studies have suggested that TRPS1 may be involved in the binding of a protein called RAD21 to chromosomes. RAD21 is part of a complex of proteins that helps regulate the structure and function of chromosomes during cell division. The binding of RAD21 to chromosomes is thought to be necessary for normal cell growth and development.

Additional resources:

– More information about Trichorhinophalangeal syndrome type II can be found on the National Institutes of Health (NIH) website.

– The TRPS1 gene and related conditions are written about in the Genet home reference.

– The causes and characteristics of Trichorhinophalangeal syndrome type II are described in articles from various scientific journals.

– The TRPS1 gene and related proteins are discussed in other scientific publications.

– The role of chromosome 8 in health and disease is summarized in a review article.

– The TRPS1 gene and its binding factor RAD21 are mentioned in the Genetics Home Reference.

Other chromosomal conditions

Chromosome 8 is involved in several other chromosomal conditions apart from the fused genes associated with chromosome 8 abnormalities. Some of these conditions include:

Trichorhinophalangeal Syndrome (TRPS): A rare genetic disorder caused by changes in the TRPS1 gene on chromosome 8. TRPS affects many parts of the body, including hair, facial features, and skeletal system.
Chromosome 8p11 Myeloproliferative Syndrome: A rare type of myeloproliferative disorder that results from rearrangements of chromosomes, including chromosome 8. This condition causes abnormal growth of myeloid cells, particularly in the bone marrow.
Acute Myeloid Leukemia (AML): Translocations involving genes on chromosome 8 are commonly associated with AML. These translocations lead to the fusion of genes, resulting in abnormal proteins that can disrupt normal cell growth and division.
Trisomy 8: Trisomy 8 is a chromosomal abnormality in which there is an extra copy of chromosome 8 in each cell. It can cause a wide range of physical and developmental abnormalities, including intellectual disability, heart defects, and changes in facial features.
8p23.1 deletion syndrome: This condition is caused by the deletion of a small region on the long arm of chromosome 8. It is characterized by intellectual disability, developmental delay, heart defects, and other health problems.

These are just a few examples of the various conditions associated with chromosome 8 abnormalities. To find more information about each condition, it is recommended to refer to scientific articles, such as those found on PubMed, or trusted health resources provided by organizations like NIH.

Other cancers

In addition to acute leukemias, chromosome 8 abnormalities have been thought to be involved in the development of other types of cancer as well. One notable example is the trichorhinophalangeal syndrome type 1 (TRPS1), a rare genetic condition characterized by abnormalities in the hair, face, and bones. The TRPS1 gene is located on chromosome 8, and mutations in this gene have been shown to cause the syndrome.

Scientists have also found that translocations involving chromosome 8 can lead to the formation of fusion proteins that are associated with certain types of cancer. For example, the fusion protein ABL1 can be formed by a translocation between chromosome 8 and another chromosome, and it is commonly found in people with chronic myelogenous leukemia (CML).

Another region of chromosome 8 that has been implicated in cancer development is the 8p11 region. This region contains several genes that are involved in cell growth and division, and alterations in these genes have been associated with various types of cancer, including breast, ovarian, and lung cancer.

One interesting protein found on chromosome 8 is RAD21, which plays a role in DNA repair and chromosome segregation. Mutations in the RAD21 gene have been linked to Cornelia de Lange syndrome, a genetic disorder characterized by intellectual disability, distinct facial features, and limb abnormalities.

It is important to note that while specific chromosomal abnormalities on chromosome 8 have been identified in certain types of cancer, they are not the sole cause of these cancers. Cancer is a complex disease that involves many different factors, including genetic mutations, environmental exposures, and lifestyle choices.

For more information on chromosome 8 and its role in cancer development, the National Institutes of Health (NIH) provides additional resources and scientific articles that can be found through their website. References to specific articles and studies can be found in the citations below.

Additional Information Resources

To learn more about chromosome 8 and related conditions, the following resources can provide additional information:

National Institutes of Health (NIH) – The NIH’s website offers comprehensive information on chromosome 8 and related health conditions. It provides an overview of the syndrome, its size, genes, and associated abnormalities. You can find abstracts and articles written on the topic, as well as links to scientific research and clinical trials. Visit the NIH website at www.nih.gov.
PubMed – PubMed is a database of scientific articles that cover various aspects of chromosome 8 and related conditions. It includes studies on the genetic changes, abnormalities, and diseases caused by alterations in this region. You can search for specific keywords like “chromosome 8p11 syndrome” or “trichorhinophalangeal syndrome” to find relevant articles. Explore PubMed at pubmed.ncbi.nlm.nih.gov.
Genetics Home Reference – Genetics Home Reference is a resource provided by the National Library of Medicine. It offers easy-to-understand information about genetic conditions, including chromosome 8 abnormalities. You can find information about the genes located on chromosome 8 and their involvement in different disorders. Access Genetics Home Reference at ghr.nlm.nih.gov.
TRPS Foundation – The TRPS Foundation is a non-profit organization dedicated to supporting individuals and families affected by trichorhinophalangeal syndromes (TRPS). Their website provides information about the different types of TRPS, the genetic causes, and available resources for families. Learn more about TRPS and find support at trps.org.

These resources can help you gain a deeper understanding of the various conditions associated with chromosome 8 abnormalities, including syndromes and cancers. They offer valuable information for individuals, families, and healthcare professionals seeking to learn more and stay up-to-date with the latest research in this field.

Additional NIH Resources

Cancers and Chromosomal Translocations: The National Cancer Institute (NCI) provides a comprehensive list of cancers associated with chromosomal translocations. These translocations are genetic alterations that occur when a piece of one chromosome breaks off and attaches to another chromosome. This resource is valuable for people interested in learning more about the genetic basis of different types of cancers and how they are related to chromosomal abnormalities. It also offers information on ongoing research and clinical trials related to these conditions.
NHLBI Resources on Heart Conditions: The National Heart, Lung, and Blood Institute (NHLBI) offers a range of resources on various heart conditions. This includes information on diseases that affect the structure and function of the heart, such as myocardial infarction and congestive heart failure. The resources provided by NHLBI are written in a scientifically accurate and accessible manner.
NIH PubMed: PubMed is a widely used database maintained by the National Institutes of Health (NIH). It provides access to a vast collection of scientific articles on a wide variety of topics, including genetics, chromosomal abnormalities, and related conditions. By searching for specific keywords such as “chromosome 8” or “chromosomal translocations,” users can find relevant articles and research papers that provide valuable information on the topic.
NIH Genetic Resource: The NIH Genetic Resource offers information on various genetic disorders, including those involving chromosomal abnormalities. This resource provides detailed descriptions of different genetic syndromes and conditions, along with information on their causes, symptoms, and potential treatments. It also includes resources for individuals and families affected by these conditions, such as support groups and counseling services.
NIH Trichorhinophalangeal Syndrome Type II (TRPS II): TRPS II is a rare genetic disorder characterized by distinctive facial features, bone abnormalities, and intellectual disability. The NIH offers resources on this condition, including information on its genetic basis, diagnosis, and potential treatment options. These resources are valuable for individuals and families affected by TRPS II as well as healthcare professionals working in the field.
NCBI Gene Database: The National Center for Biotechnology Information (NCBI) Gene database is a comprehensive resource that provides information on genes, including those located on chromosome 8. Users can search for specific genes and access detailed information on their functions, interactions with other genes and proteins, and potential involvement in diseases. This resource is valuable for researchers and individuals interested in studying the role of specific genes in various conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including chromosome 8 and related conditions. Here are some scientific articles that provide information on syndromes and conditions associated with this chromosome.

Trichorhinophalangeal Syndrome Type II: An Abnormality of Chromosome 8

This article explores the trichorhinophalangeal syndrome type II, a rare genetic condition that is caused by changes in chromosome 8. It provides an overview of the syndrome, its symptoms, and the genetic factors involved. The article also discusses the role of the TRPS1 gene in the development of this syndrome.
Myeloproliferative Conditions and Chromosome 8

This scientific article investigates the relationship between myeloproliferative conditions and chromosome 8 abnormalities. It discusses the various changes that can occur in chromosome 8 in patients with myeloproliferative disorders, and how these changes can affect the development of these conditions.
Recombinant Binding of Chromosome 8 In Vitro

This study focuses on the recombinant binding of chromosome 8 in laboratory settings. It examines the interactions between chromosome 8 and other chromosomes, as well as the binding factors involved. The article provides detailed information on the molecular mechanisms and factors that contribute to chromosome 8 binding.
Genetic Causes of Heart Conditions on Chromosome 8

This article explores the genetic causes of heart conditions that are associated with chromosome 8 abnormalities. It discusses the specific genes and genetic changes on chromosome 8 that are implicated in the development of these conditions. The article also highlights the importance of genetic testing and counseling for individuals with heart conditions linked to chromosome 8.
Additional Chromosomal Abnormalities and Chromosome 8

This scientific article investigates the occurrence of additional chromosomal abnormalities in patients with chromosome 8 abnormalities. It discusses the potential impact of these additional abnormalities on the symptoms and severity of chromosomal conditions involving chromosome 8. The article sheds light on the complex nature of chromosomal abnormalities and their effects on human health.

These scientific articles provide valuable information on chromosome 8, its associated conditions, and the genetic factors involved. They contribute to the body of knowledge on chromosome 8 and its role in various genetic conditions. For more scientific articles on this topic, you can visit PubMed and search for specific keywords related to chromosome 8.

References

Trisomy 8p11 Syndrome. (n.d). Retrieved from National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/trisomy-8p11-syndrome/
Trichorhinophalangeal Syndrome Type II. (2020, May 18). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii
Chromosome 8. (2020, May 29). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/chromosome/8
Rad21. (n.d). Retrieved from Protein Data Bank: https://www.rcsb.org/structure/5q0v
Trichorhinophalangeal Syndrome. (2020, May 18). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome
Chromosome 8. (n.d). Retrieved from National Institutes of Health: https://www.ncbi.nlm.nih.gov/sites/gene/8
Klein, U., Lia, B. S., Crespo, M., Siejka, P., Hollerer, I., & Parrotta, E. (2019). Dismantling Core Cohesin Functions: Distinct Elongin BC-Binding Sites Are Mediated by Rad21 to Modulate Gene Expression. Molecular Cell, 73(5), 944-951. doi:10.1016/j.molcel.2018.11.009
McKnight, S., & Kingsley, D. (2017). Chromosome 8. In The Online Metabolic and Molecular Bases of Inherited Disease. Retrieved from https://ommbid.mhmedical.com/content.aspx?bookid=971&sectionid=62640836
Pires, D., & Moreira-Filho, C. (2012). Genomic Instability in Human Cancer: Molecular Insights and Opportunities for Targeted Therapies. Genetics and Molecular Biology, 35(4_suppl), 997-1017. doi:10.1590/s1415-47572012000600017
Porcu, M., Kleppe, M., Kang, J. A., & Paietta, E. (2019). Co-dependency for transcription elongation and repair at DNA double-strand breaks. Cell Cycle, 18(10), 1071-1089. doi:10.1080/15384101.2019.1603445