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Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
http://hdl.handle.net/2298/9221
http://hdl.handle.net/2298/922171eaabdf-33e6-4590-89fa-489c577cc8b5
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Reposit-HMG-01YI.pdf (650.6 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2008-08-21 | |||||
| タイトル | ||||||
| タイトル | Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | 先天性無痛無汗症, 遺伝性感覚自律神経性ニューロパシー IV 型, 神経成長因子, 神経成長因子受容体, チロシンキナーゼ型神経成長因子受容体, TRKA 遺伝子, NTRK1 遺伝子 congenital insensitivity to pain with anhidrosis, hereditary sensory and autonomic neuropathy type IV, nerve growth factor, NGF, nerve growth factor receptor, receptor tyrosine kinase for NGF, TRKA gene, NTRK1 gene |
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| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Mardy, Sek
× Mardy, Sek× 三浦, 裕一× Endo, Fumio× 松田, 一郎× Indo, Yasuhiro |
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| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Human TRKA (NTRK1) encodes the receptor tyrosine kinases (RTKs) for nerve growth factor (NGF) and is the gene responsible for congenital insensitivity to pain with anhidrosis (CIPA), an autosomal recessive disorder characterized by a lack of pain sensation and anhidrosis. We reported 11 putative missense mutations in 31 CIPA families from various ethnic groups. Here we have introduced the corresponding mutations into the TRKA cDNA and examined NGF-stimulated autophosphorylation. We find that wild-type TRKA precursor proteins in a neuronal and a non-neuronal cell line were differentially processed and phosphorylated in an NGF-dependent and -independent manner, respectively. Two mutants (L93P and L213P) in the extracellular domain were aberrantly processed and showed diminished autophosphorylation in neuronal cells. Five mutants (G516R, G571R, R643W, R648C and G708S) in the tyrosine kinase domain were processed as wild-type TRKA but showed significantly diminished auto-phosphorylation in both neuronal and non-neuronal cells. In contrast, R85S and (H598Y; G607V), detected previously as double and triple mutations, are probably polymorphisms in a particular ethnic background. The other putative mutant D668Y might be a rare polymorphism or might impair the function of TRKA without compromising autophosphorylation. Mutated residues in the tyrosine kinase domain are conserved in various RTKs and probably contribute to critical function of these proteins. Thus, naturally occurring TRKA missense mutations with loss of function provide considerable insight into the structure-function relationship in the RTK family. Our data may aid in developing a drug which targets the clinically devastating 'complex regional pain syndrome'. | |||||
| 書誌情報 |
Human Molecular Genetics 巻 10, 号 3, p. 179-188, 発行年 2001-02-01 |
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| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA10836720 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | http://doi.org/10.1093/hmg/10.3.179 | |||||
| 権利 | ||||||
| 権利情報 | Copyright © 2001 Oxford University Press | |||||
| 情報源(ISSN) | ||||||
| 関連名称 | 09646906 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 値 | 616658 bytes | |||||
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| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 493.937 | |||||
| 出版者 | ||||||
| 出版者 | Oxford University Press | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 論文(Article) | |||||
| 資源タイプ・ローカル | ||||||
| 値 | 雑誌掲載論文 | |||||
| 資源タイプ・NII | ||||||
| 値 | Journal Article | |||||
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| 値 | text | |||||
| 資源タイプ・ローカル表示コード | ||||||
| 値 | 01 | |||||
