PAX遺伝子群

提供:脳科学辞典
2012年10月30日 (火) 19:08時点におけるNosumi (トーク | 投稿記録)による版

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英:Paired box (Pax) genes

 Pax遺伝子群は動物胎生期に、組織や器官の発生において中心的な役割を果たす遺伝子ファミリーである。脊椎動物ではPax1〜Pax9の9種類が同定されている(図)。Pax遺伝子群は DNA結合ドメインであるペアードドメイン(PD)と呼ばれる領域を共通に持っている。また、Pax遺伝子にはオクタペプチドモチーフ(OP)を持つものや、DNA結合ドメインであるホメオドメイン、もしくはホメオドメインの一部を持つものがある。このような遺伝子配列の違いから、Pax遺伝子群は4つのサブファミリーに分類される。 Pax遺伝子群はヒトマウスに於いて、病気の原因遺伝子として同定されたものが多い。例えば、眼の発生のマスター制御遺伝子であるPAX6は、無虹彩症の原因遺伝子である。

胎生期および生後の神経系におけるPax遺伝子群の発現パターン

詳細は図およびAllen Brain Atlas[[1]]を参照にされたい。特にPax6は、神経板期(数体節期:マウスE8.5)に、前脳区画および前耳溝以後の菱脳脊髄で発現が開始する。神経管閉鎖後、脳胞期(約30体節期: マウスE10.5)には、終脳背側(将来の大脳皮質領域)、間脳背側(将来の腹側・背側視床)、菱脳脊髄の腹外側で発現する。生後も脳室層、扁桃体視床海馬小脳下垂体などで発現が見られる。中枢神経系以外では、水晶体角膜上皮、網膜神経上皮、嗅上皮、膵臓に発現している。

神経系の発生におけるPax遺伝子群の機能

 Pax遺伝子群は他の転写遺伝子と協調し、神経系の発生初期では細胞の運命決定や脳の領域化 [1][2][3][4][5][6]、発生後期では細胞増殖、細胞移動、細胞分化に関わっている[7][8][9][10][11][12][13]。Pax遺伝子群の発現は胎生期において認められるだけではなく、生後および成体脳においても認められる[2][10][11][14][15][16][17][18][19][20]


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