chromodomain helicase DNA binding protein 8
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der CHD8 gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromatin remodeling is one way gene expression is regulated during development.
Normal function
Der CHD8 gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromatin remodeling is one way gene expression is regulated during development.
The CHD8 protein is thought to affect the expression of many other genes that are involved in brain development before birth. In particular, the CHD8 protein and the genes it regulates likely help control the development of neural progenitor cells, which give rise to nerve cells (neurons), and the growth and division (proliferation) and maturation (differentiation) of neurons. In this way, the CHD8 protein helps to control the number of neurons in the brain and prevent overgrowth.
Conditions referring to this gene or chromosome
Other names
ATP-dependent helicase CHD8
AUTS18
axis duplication inhibitor
chromodomain-helicase-DNA-binding protein 8 isoform 1
chromodomain-helicase-DNA-binding protein 8 isoform 2
duplin
helicase with SNF2 domain 1
HELSNF1
KIAA1564
Related patient information and medicines
Patient information leaflet
Genetische Tests
Genetik testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. They are all designed to identify a particular gene that may cause a genetic disorder. We all have 46 chromosomes in our cells. Chromosomes are made from.
Patient information leaflet
Das Immunsystem
These diseases are managed by the specialist who knows most about the system affected for that person - eg, multiple sclerosis is managed by a neurologist. What is the immune system. We are surrounded by millions of bacteria, viruses and other germs (microbes) that have the potential to enter our bodies and cause harm. The immune system is the.
Patient information leaflet
Muskeldystrophie
There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Other people in the family can also be tested to see if they have a muscular dystrophy.
Patient information leaflet
Alpha-1-Antitrypsin-Mangel
Alpha-1 antitrypsin deficiency ist ein inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin ... Treatment aims at slowing down the progression of the disease. What is alpha-1 antitrypsin. Alpha-1 antitrypsin (A1AT) ist a protein made by cells in the liver. It passes from the.
Patient information leaflet
Gesunde Ernährung
However, as part of a healthy diet, you should aim to keep both the amount of saturated fats and trans fats to a minimum. A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated fats lowers your risk of developing coronary heart disease, although there was no evidence that it.
Patient information leaflet
Hämophilie
Der Blut contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. Haemophilia is a condition where there is a deficiency of clotting factors, so people with this condition usually have prolonged bleeding. There is no cure but with available treatments most people.
Weiterführende Lektüre und Referenzen
- chromodomain helicase DNA binding protein 8; MedlinePlus, National Library of Medicine.
- Barnard RA, Pomaville MB, O'Roak BJ. Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. Front Neurosci. 2015 Dec 17;9:477. doi: 10.3389/fnins.2015.00477. eCollection 2015.
- Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014 Jul 17;158(2):263-276. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3.
- Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, Liu W, Klei L, Lei J, Yin J, Reilly SK, Tebbenkamp AT, Bichsel C, Pletikos M, Sestan N, Roeder K, State MW, Devlin B, Noonan JP. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun. 2015 Mar 10;6:6404. doi: 10.1038/ncomms7404.
- Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 2014 Feb;37(2):95-105. doi: 10.1016/j.tins.2013.11.005. Epub 2013 Dec 30.
- O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.
- Pramparo T, Lombardo MV, Campbell K, Barnes CC, Marinero S, Solso S, Young J, Mayo M, Dale A, Ahrens-Barbeau C, Murray SS, Lopez L, Lewis N, Pierce K, Courchesne E. Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers. Mol Syst Biol. 2015 Dec 14;11(12):841. doi: 10.15252/msb.20156108.
- Sanders SJ. First glimpses of the neurobiology of autism spectrum disorder. Curr Opin Genet Dev. 2015 Aug;33:80-92. doi: 10.1016/j.gde.2015.10.002. Epub 2015 Nov 9.
- Stolerman ES, Smith B, Chaubey A, Jones JR. CHD8 intragenic deletion associated with autism spectrum disorder. Eur J Med Genet. 2016 Apr;59(4):189-94. doi: 10.1016/j.ejmg.2016.02.010. Epub 2016 Feb 26.
- Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.
- Wilkinson B, Grepo N, Thompson BL, Kim J, Wang K, Evgrafov OV, Lu W, Knowles JA, Campbell DB. The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. Transl Psychiatry. 2015 May 19;5(5):e568. doi: 10.1038/tp.2015.62.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Jun 2017 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.