CHD2

CHD2
معین‌کننده‌ها
نام‌های دیگر	CHD2, EEOC, chromodomain helicase DNA binding protein 2, DEE94
شناسه‌های بیرونی	OMIM: 602119 MGI: 2448567 HomoloGene: 37462 GeneCards: CHD2
موقعیت ژن (موش)
کروموزوم	کروموزوم ۷ (موش)
پایان	73,191,578 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• DNA binding; • nucleotide binding; • GO:0008026 helicase activity; • GO:0004003 DNA helicase activity; • GO:0031493 histone binding; • core promoter sequence-specific DNA binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • hydrolase activity; • ATP binding; • RNA binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding;
ترکیبات سلولی	• intracellular membrane-bounded organelle; • نوکلئوپلاسم; • هستک; • extracellular exosome; • هسته یاخته;
فرایند زیستی	• GO:0009373 regulation of transcription, DNA-templated; • GO:0044324، GO:0003256، GO:1901213، GO:0046019، GO:0046020، GO:1900094، GO:0061216، GO:0060994، GO:1902064، GO:0003258، GO:0072212 regulation of transcription by RNA polymerase II; • muscle organ development; • transcription, DNA-templated; • cellular response to DNA damage stimulus; • hematopoietic stem cell differentiation; • DNA duplex unwinding; • GO:0031497، GO:0006336، GO:0034724، GO:0001301، GO:0007580، GO:0034652، GO:0010847 chromatin organization;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	1106
	244059
	ENSG00000173575
	ENSMUSG00000078671
	O14647
	E9PZM4
	NM_001042572 NM_001271، NM_001042572
	NM_001081345
	NP_001262 NP_001036037، NP_001262
	NP_001074814
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

پروتئین شمارهٔ ۲ متصل‌شونده به دی‌ان‌ای-کرومودومین-هلیکاز (انگلیسی: Chromodomain-helicase-DNA-binding protein 2) که به‌اختصار «CHD2» نامیده می‌شود، نام آنزیمی است که در انسان توسط ژن «CHD2» کُد می‌شود.^[۴]^[۵]

جهش در این ژن، سبب ایجاد انسفالوپانی‌های تشنج‌دهنده می‌شود.^[۶]^[۷]^[۸]^[۹]^[۱۰]

امروزه همچنین این ژن را با بروز سندرم لنوکس-گستو مرتبط می‌دانند.^[۱۱]^[۱۲]

عملکرد ویرایش

مشخصه خانواده پروتئین‌های CHD، حضور دومین‌های کرومو (تعدیلگران ساختار کروماتین) و دومین‌های هلیکاز/ATPase است. ژن‌های CHD، احتمالاً بیان ژن را با تغییر ساختار کروماتین تغییر می‌دهند و بدین طریق دسترسی دستگاه رونویسی به DNA الگوی کروموزومی‌اش را تغییر می‌دهند. CHD2 فرایند سرهمبندی شدن کروماتین به آرایه‌های متناوب را کاتالیز کرده و ناحیه پایانه-N از CHD2 شامل کرومودومین‌های پشت سرهمی است که در فعالیت‌های ATPaseی و اتصال به DNA نقش خود-بازدارندگی دارد.^[۱۳] برای این ژن، واریانت‌های رونویسیِ پیرایش دگرسان که ایزوفورم‌های متمایزی را کد می‌کنند نیز یافت شده‌است.^[۵]

اهمیت بالینی ویرایش

جهش‌های «دِ نووو» و حذف‌های این ژن را با مواردی از حملات انسفالوپاتی مرتبط دانسته‌اند.^[۶]^[۱۴]^[۱۵]^[۱۶]^[۱۷]

شواهد فزاینده، حملات CHD2 را به عنوان زیر-جمعیتی از سندرم لنوکس-گستو شناسایی کرده‌اند.^[۱۸]^[۱۹]

منابع ویرایش

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000078671 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–7. doi:10.1073/pnas.94.21.11472. PMC 23509. PMID 9326634.
↑ ^۵٫۰ ^۵٫۱ "Entrez Gene: CHD2 chromodomain helicase DNA binding protein 2".
↑ ^۶٫۰ ^۶٫۱ Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC (Jul 2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–30. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187.
↑ Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". Journal of Neurodevelopmental Disorders. 6 (1): 9. doi:10.1186/1866-1955-6-9. PMC 4022362. PMID 24834135.
↑ Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I (Nov 2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". American Journal of Human Genetics. 93 (5): 967–75. doi:10.1016/j.ajhg.2013.09.017. PMC 3824114. PMID 24207121.
↑ EuroEPINOMICS-RES Consortium (Oct 2014). "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies". American Journal of Human Genetics. 95 (4): 360–70. doi:10.1016/j.ajhg.2014.08.013. PMC 4185114. PMID 25262651.
↑ Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C (Sep 2014). "15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity". European Journal of Medical Genetics. 57 (9): 520–3. doi:10.1016/j.ejmg.2014.06.003. PMID 24932903.
↑ Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (Apr 2014). "CHD2 mutations in Lennox-Gastaut syndrome". Epilepsy & Behavior. 33: 18–21. doi:10.1016/j.yebeh.2014.02.005. PMID 24614520.
↑ Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C (Feb 2012). "Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency". European Journal of Medical Genetics. 55 (2): 132–4. doi:10.1016/j.ejmg.2011.10.004. PMID 22178256.
↑ Liu JC, Ferreira CG, Yusufzai T (Jan 2015). "Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains". The Journal of Biological Chemistry. 290 (1): 25–34. doi:10.1074/jbc.M114.609156. PMC 4281729. PMID 25384982.
↑ Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". Journal of Neurodevelopmental Disorders. 6 (1): 9. doi:10.1186/1866-1955-6-9. PMC 4022362. PMID 24834135.
↑ Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I (Nov 2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". American Journal of Human Genetics. 93 (5): 967–75. doi:10.1016/j.ajhg.2013.09.017. PMC 3824114. PMID 24207121.
↑ EuroEPINOMICS-RES Consortium (Oct 2014). "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies". American Journal of Human Genetics. 95 (4): 360–70. doi:10.1016/j.ajhg.2014.08.013. PMC 4185114. PMID 25262651.
↑ Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C (Sep 2014). "15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity". European Journal of Medical Genetics. 57 (9): 520–3. doi:10.1016/j.ejmg.2014.06.003. PMID 24932903.
↑ Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (Apr 2014). "CHD2 mutations in Lennox-Gastaut syndrome". Epilepsy & Behavior. 33: 18–21. doi:10.1016/j.yebeh.2014.02.005. PMID 24614520. S2CID 140207920.
↑ Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C (Feb 2012). "Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency". European Journal of Medical Genetics. 55 (2): 132–4. doi:10.1016/j.ejmg.2011.10.004. PMID 22178256.

برای مطالعهٔ بیشتر ویرایش

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پیوند به بیرون ویرایش

CHD2 در دانشنامهٔ اجزای دی‌ان‌ای

مکان ژنوم CHD2 انسانی و صفحهٔ جزئیات ژنی CHD2 در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000078671 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid_9326634-4] Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–7. doi:10.1073/pnas.94.21.11472. PMC 23509. PMID 9326634.

[entrez-5] ۵٫۰ ^۵٫۱ "Entrez Gene: CHD2 chromodomain helicase DNA binding protein 2".

[pmid_23708187-6] ۶٫۰ ^۶٫۱ Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC (Jul 2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–30. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187.

[7] Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". Journal of Neurodevelopmental Disorders. 6 (1): 9. doi:10.1186/1866-1955-6-9. PMC 4022362. PMID 24834135.

[8] Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I (Nov 2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". American Journal of Human Genetics. 93 (5): 967–75. doi:10.1016/j.ajhg.2013.09.017. PMC 3824114. PMID 24207121.

[9] EuroEPINOMICS-RES Consortium (Oct 2014). "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies". American Journal of Human Genetics. 95 (4): 360–70. doi:10.1016/j.ajhg.2014.08.013. PMC 4185114. PMID 25262651.

[10] Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C (Sep 2014). "15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity". European Journal of Medical Genetics. 57 (9): 520–3. doi:10.1016/j.ejmg.2014.06.003. PMID 24932903.

[11] Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (Apr 2014). "CHD2 mutations in Lennox-Gastaut syndrome". Epilepsy & Behavior. 33: 18–21. doi:10.1016/j.yebeh.2014.02.005. PMID 24614520.

[12] Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C (Feb 2012). "Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency". European Journal of Medical Genetics. 55 (2): 132–4. doi:10.1016/j.ejmg.2011.10.004. PMID 22178256.

[13] Liu JC, Ferreira CG, Yusufzai T (Jan 2015). "Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains". The Journal of Biological Chemistry. 290 (1): 25–34. doi:10.1074/jbc.M114.609156. PMC 4281729. PMID 25384982.

[14] Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". Journal of Neurodevelopmental Disorders. 6 (1): 9. doi:10.1186/1866-1955-6-9. PMC 4022362. PMID 24834135.

[15] Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I (Nov 2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". American Journal of Human Genetics. 93 (5): 967–75. doi:10.1016/j.ajhg.2013.09.017. PMC 3824114. PMID 24207121.

[16] EuroEPINOMICS-RES Consortium (Oct 2014). "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies". American Journal of Human Genetics. 95 (4): 360–70. doi:10.1016/j.ajhg.2014.08.013. PMC 4185114. PMID 25262651.

[17] Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C (Sep 2014). "15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity". European Journal of Medical Genetics. 57 (9): 520–3. doi:10.1016/j.ejmg.2014.06.003. PMID 24932903.

[18] Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (Apr 2014). "CHD2 mutations in Lennox-Gastaut syndrome". Epilepsy & Behavior. 33: 18–21. doi:10.1016/j.yebeh.2014.02.005. PMID 24614520. S2CID 140207920.

[19] Capelli LP, Krepischi AC, Gurgel-Giannetti J, Mendes MF, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C (Feb 2012). "Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency". European Journal of Medical Genetics. 55 (2): 132–4. doi:10.1016/j.ejmg.2011.10.004. PMID 22178256.

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