CHD7
クロモドメインヘリカーゼDNA結合タンパク質7（Chromodomain-helicase-DNA-binding protein 7）またはATP依存性ヘリカーゼCHD7（ATP-dependent helicase CHD7）はヒトにおいてCHD7遺伝子にコードされている酵素である[5][6]。
CHD7はATP依存性クロマチン再構築タンパク質であり、ショウジョウバエのトライソラックス群タンパク質Kismetと相同性がある[7]。CHD7の変異はCHARGE症候群と関連している[8]。
モデル生物
| 特徴 | 表現型 |
|---|---|
| ホモ接合体生存能力 | 異常 |
| 劣性致死事件 | 異常 |
| 生殖能力 | Normal |
| 体重 | Normal |
| 不安神経症 | Normal |
| 神経学的評価 | Abnormal[9] |
| 握力 | Normal |
| ホットプレート | Normal |
| 形態異常診断学 | Normal |
| 間接熱量測定 | Normal |
| ブドウ糖負荷試験 | Normal |
| 聴性脳幹反応 | Normal |
| DEXA | Normal |
| X線撮影 | Normal[10] |
| 体温 | Normal |
| 眼の形態 | Abnormal[11] |
| 臨床化学 | Normal |
| 血液学 | Normal |
| 末梢血リンパ球 | Normal |
| 小核試験 | Normal |
| 心臓重量 | Normal |
| 脳の組織病理 | Abnormal |
| サルモネラ感染 | Normal[12] |
| シトロバクター感染 | Normal[13] |
| データ出典[14][15] |
モデル生物がCHD7の機能の研究に使われてきた。Chd7tm2a(EUCOMM)Wtsi[16]と呼ばれる条件付ノックアウトマウス系統が国際ノックアウトマウスコンソーシアムプログラムの一部として作られた[17][18][19]。
雄と雌は遺伝子欠損の影響を決定するために標準化された表現型スクリーニングに供された[14][20]。変異マウスに対して24種類の試験が行われ、5つの有意な異常が観察された[14]。ホモ接合変異胚は妊娠中に同定されなかった、したがって離乳まで生存したものはいなかった。残りの試験はヘテロ接合変異成体マウスに対して行われた。雄ヘテロ接合体は改良 SHIRPA試験において異常な骨盤挙上を示し、両眼でベルクマイスター乳頭の多発が認められた。ヘテロ接合動物の脳が研究され、脳梁の欠如が観察された[14]。
出典
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000171316 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041235 - Ensembl, May 2017
- ↑ Human PubMed Reference:
- ↑ Mouse PubMed Reference:
- ↑ “Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro”. DNA Research 7 (1): 65–73. (Feb 2000). doi:10.1093/dnares/7.1.65. PMID 10718198.
- ↑ “Entrez Gene: chromodomain helicase DNA binding protein 7”. 2018年2月3日閲覧。
- ↑ “CHD7 cooperates with PBAF to control multipotent neural crest formation”. Nature 463 (7283): 958–62. (Feb 2010). doi:10.1038/nature08733. PMC 2890258. PMID 20130577.
- ↑ “Mutations in a new member of the chromodomain gene family cause CHARGE syndrome”. Nature Genetics 36 (9): 955–7. (Sep 2004). doi:10.1038/ng1407. PMID 15300250.
- ↑ “Neurological assessment data for Chd7”. Wellcome Trust Sanger Institute. Template:Cite webの呼び出しエラー：引数 accessdate は必須です。[リンク切れ]
- ↑ “Radiography data for Chd7”. Wellcome Trust Sanger Institute. Template:Cite webの呼び出しエラー：引数 accessdate は必須です。[リンク切れ]
- ↑ “Eye morphology data for Chd7”. Wellcome Trust Sanger Institute. Template:Cite webの呼び出しエラー：引数 accessdate は必須です。[リンク切れ]
- ↑ “Salmonella infection data for Chd7”. Wellcome Trust Sanger Institute. Template:Cite webの呼び出しエラー：引数 accessdate は必須です。[リンク切れ]
- ↑ “Citrobacter infection data for Chd7”. Wellcome Trust Sanger Institute. Template:Cite webの呼び出しエラー：引数 accessdate は必須です。[リンク切れ]
- 1 2 3 4 Gerdin AK (2010). “The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice”. Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ “Chd7tm2a(EUCOMM)Wtsi”. 2018年2月3日閲覧。
- ↑ “A conditional knockout resource for the genome-wide study of mouse gene function”. Nature 474 (7351): 337–42. (Jun 2011). doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ↑ “Mouse library set to be knockout”. Nature 474 (7351): 262–3. (Jun 2011). doi:10.1038/474262a. PMID 21677718.
- ↑ “A mouse for all reasons”. Cell 128 (1): 9–13. (Jan 2007). doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ “The mouse genetics toolkit: revealing function and mechanism”. Genome Biology 12 (6): 224. (2011). doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
推薦文献
- “Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability”. Clinical Genetics 72 (2): 112–21. (Aug 2007). doi:10.1111/j.1399-0004.2007.00821.x. PMID 17661815.
- “Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype”. American Journal of Medical Genetics Part A 143A (22): 2712–5. (Nov 2007). doi:10.1002/ajmg.a.32008. PMID 17937444.
- “New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene”. Ophthalmic Genetics 29 (2): 79–84. (Jun 2008). doi:10.1080/13816810801918391. PMID 18484313.
- “CHARGE syndrome: an update”. European Journal of Human Genetics 15 (4): 389–99. (Apr 2007). doi:10.1038/sj.ejhg.5201778. PMID 17299439.
- “Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome”. American Journal of Human Genetics 83 (4): 511–9. (Oct 2008). doi:10.1016/j.ajhg.2008.09.005. PMC 2561938. PMID 18834967.
- “Determination of genetic predisposition to patent ductus arteriosus in preterm infants”. Pediatrics 123 (4): 1116–23. (Apr 2009). doi:10.1542/peds.2008-0313. PMC 2734952. PMID 19336370.
- “Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype”. European Journal of Medical Genetics 52 (4): 271–2. (2009). doi:10.1016/j.ejmg.2009.02.005. PMID 19248844.
- “CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome”. Clinical Genetics 74 (1): 31–8. (Jul 2008). doi:10.1111/j.1399-0004.2008.01014.x. PMID 18445044.
- “Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome”. Clinical and Experimental Immunology 153 (1): 75–80. (Jul 2008). doi:10.1111/j.1365-2249.2008.03681.x. PMC 2432100. PMID 18505430.
- “CHARGE syndrome: report of 47 cases and review”. American Journal of Medical Genetics 76 (5): 402–9. (Apr 1998). doi:10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O. PMID 9556299.
- “CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome”. Clinical Genetics 75 (1): 65–71. (Jan 2009). doi:10.1111/j.1399-0004.2008.01107.x. PMC 2854009. PMID 19021638.
- “Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability”. American Journal of Medical Genetics Part A 146A (1): 43–50. (Jan 2008). doi:10.1002/ajmg.a.31921. PMID 18074359.
- “A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features”. Clinical Dysmorphology 17 (4): 249–53. (Oct 2008). doi:10.1097/MCD.0b013e328306a704. PMID 18978652.
- “Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome”. European Journal of Medical Genetics 51 (5): 417–25. (2008). doi:10.1016/j.ejmg.2008.03.003. PMID 18472328.
- “Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome”. Clinical Genetics 75 (3): 290–3. (Mar 2009). doi:10.1111/j.1399-0004.2008.01127.x. PMID 19159393.
- “[Mutation analysis of the CHD7 gene in patients with congenital heart disease]”. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 25 (6): 637–41. (Dec 2008). PMID 19065520.
- “Immunological abnormalities in CHARGE syndrome”. European Journal of Medical Genetics 50 (5): 338–45. (2007). doi:10.1016/j.ejmg.2007.05.002. PMID 17684005.
- “Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones”. DNA Research 9 (3): 99–106. (Jun 2002). doi:10.1093/dnares/9.3.99. PMID 12168954.
- “Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions”. Genetics in Medicine 9 (10): 690–4. (Oct 2007). doi:10.1097/GIM.0b013e318156e68e. PMID 18073582.
- “Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome”. Human Molecular Genetics 18 (11): 1909–23. (Jun 2009). doi:10.1093/hmg/ddp112. PMC 2678924. PMID 19279158.
- Buck, Cassandra; Balasubramanian, Ravikumar; Crowley, Jr, William F (2013-07-18). Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. NBK1334 In GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. (1993)
- Lalani, Seema R; Hefner, Margaret A; Belmont, John W; Davenport, Sandra LH (2012-02-02). CHARGE Syndrome. NBK1117 In GeneReviews
- Bardakjian, Tanya; Weiss, Avery; Schneider, Adele S (2006-05-26). Anophthalmia/Microphthalmia Overview. NBK1378 In GeneReviews
外部リンク
- CHD7 protein, human - MeSH・アメリカ国立医学図書館・生命科学用語シソーラス
- Human CHD7 genome location and CHD7 gene details page in the UCSC Genome Browser.