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4,874,465 | MECP2 | null | MECP2(methyl-CpG binding protein 2)ã¯ãMECP2éºäŒåã«ã³ãŒããããã¿ã³ãã¯è³ªã§ãããMECP2ã¯ç¥çµçŽ°èã®æ£åžžãªæ©èœã«å¿
èŠäžå¯æ¬ ã§ããããã§ããããã®ã¿ã³ãã¯è³ªã¯æçããç¥çµçŽ°èã«é«ã¬ãã«ã§ååšããŠããããããã现èã§ç¹ã«éèŠãªåœ¹å²ãæãããŠãããšèããããŠãããMECP2ã¯ããã€ãã®éºäŒåã®æå¶(ãµã€ã¬ã³ã·ã³ã°)ã«é¢äžããŠããå¯èœæ§ãé«ãããããã®éºäŒåã«ã³ãŒããããã¿ã³ãã¯è³ªãå¿
èŠã§ãªããšãã«åæãããªãããã«ããŠãããè¿å¹Žã®ç 究ã§ã¯ãMECP2ã¯éºäŒåã®æŽ»æ§åã«ãé¢äžããŠããããšã瀺ãããŠãããMECP2éºäŒåã¯Xæè²äœé·è
ã®ãã³ã28(Xq28)ã«äœçœ®ããŠããã |
4,874,465 | MECP2 | null | MECP2ã¯DNAã¡ãã«åã®ãªãŒããŒ(èªèãæ
ãå å)ãšããŠéèŠã§ãããã¡ãã«åCpGçµåãã¡ã€ã³(MBD)ã¯5-ã¡ãã«ã·ãã·ã³(5-mC)é åãèªèãããMECP2éºäŒåã¯Xé£ééºäŒåã§ãããXæè²äœã®äžæŽ»æ§åã®åœ±é¿ãåãããMECP2éºäŒåã®å€ç°ã¯ãé²è¡æ§ã®ç¥çµçºéé害ã§ããã¬ããçå矀ã®å€§éšåã®çäŸã®åå ãšãªã£ãŠããããŸã女æ§ã«ãããèªç¥æ©èœé害ã®æãäžè¬çãªåå ã®1ã€ã§ããããã®éºäŒåã«ã¯å°ãªããšã53çš®é¡ã®çŸæ£åå å€ç°ãçºèŠãããŠããã |
4,874,465 | MECP2 | æ©èœ | MECP2ã¿ã³ãã¯è³ªã¯äœå
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4,874,465 | MECP2 | äœçšæ©åº | MECP2ã¯ã¡ãã«åãããDNAã«çµåãããMECP2ã¯ä»ã®ã¿ã³ãã¯è³ªãšçžäºäœçšããŠè€åäœã圢æããéºäŒåã®çºçŸããªãã«ãããMECP2ã¯ã·ãã·ã³(C)ã«ååŠçå€å(ã¡ãã«å)ãçããã²ãã é åã«éžæçã«çµåãããããããååŠçå€åã¯CpGã¢ã€ã©ã³ããšåŒã°ããç¹å®ã®CpGé
åã«çãããCpGã¢ã€ã©ã³ãã¯å€ãã®éºäŒåã«ååšããŠãããéºäŒåã®éå§éšäœè¿åã«é«é »åºŠã§ååšããŠãããå€ãã®å Žåãã¡ãã«åãèµ·ãã£ãŠããªããšãã«ã¯MECP2ã¯ããããéšäœã«çµåããªããããã€ãã®éºäŒåã®çºçŸã¯CpGã¢ã€ã©ã³ãã®ã¡ãã«åãä»ããŠèª¿ç¯ãããŠãããMECP2ã¯ããããéºäŒåã®äžéšã®èª¿ç¯ã«é¢äžããŠããå¯èœæ§ããããMECP2ã®å
·äœçãªæšçéºäŒåã¯æªåå®ã§ããããæšçéºäŒåã¯äžæ¢ç¥çµç³»ã®æ£åžžãªæ©èœã«éèŠãªåœ¹å²ãæãããŠãããšèããããŠãããäžæ¹ã§ãç¥çµçŽ°èã«ãããMECP2çµåéšäœã®å€§èŠæš¡ãããã³ã°ç 究ã§ã¯ãçµåéšäœã®ãã¡CpGã¢ã€ã©ã³ãå
ã«äœçœ®ããŠãããã®ã¯ããã6%ã§ããããšã瀺ãããããŸããMECP2ãçµåããŠããããã¢ãŒã¿ãŒã®çŽ63%ã¯æŽ»çºã«çºçŸããŠãããé«åºŠã«ã¡ãã«åãçããŠããã®ã¯ããã6%ã§ãã£ãããã®ããšã¯ãMECP2ãã¡ãã«åããã¢ãŒã¿ãŒã®ãµã€ã¬ã³ã·ã³ã°ä»¥å€ã®äœããã®æ©èœãæããŠããããšã瀺åããŠããã |
4,874,465 | MECP2 | äœçšæ©åº | çµåããMECP2ã¯ã¯ãããã³æ§é ãåçž®ããããã¹ãã³ãã¢ã»ãã©ãŒãŒ(HDAC)ãšè€åäœã圢æããããããã¯è»¢åå åãçŽæ¥çã«é®æãããšãã£ãéçšã«ãã£ãŠè»¢åãªãã¬ããµãŒãšããŠæ©èœãããè¿å¹Žã®ç 究ã§ã¯ãMECP2ã¯è»¢åå åCREB1(è±èªç)ã®ãªã¯ã«ãŒããä»ããŠè»¢åã¢ã¯ãããŒã¿ãŒãšããŠæ©èœããŠããå¯èœæ§ã瀺ãããŠããããã®ããšã¯ãMECP2ãéºäŒåçºçŸã«ãããŠäºéã®åœ¹å²ãæãããŠããå¯èœæ§ã®ããéèŠãªè»¢å調ç¯å åã§ããããšã瀺åããŠãããå®éã«ãMECP2ã«ãã£ãŠèª¿ç¯ãããéºäŒåã®å€§éšåã¯ãæå¶ã§ã¯ãªã掻æ§åãããŠããããã§ãããããããªãããMECP2ããããã®éºäŒåãçŽæ¥èª¿ç¯ããŠããã®ãããããšãããããå€åãäºæ¬¡çãªãã®ã§ããã®ãã«é¢ããŠã¯è°è«ãããããã®åŸã®ç 究ã§ã¯ãããã€ãã®ã±ãŒã¹ã§ã¯MECP2ãéã¡ãã«åDNAã«çŽæ¥çµåããŠããå¯èœæ§ã瀺ãããŠãããMECP2ã¯ãUBE3A(è±èªç)ãDLX5(è±èªç)ãšãã£ãã€ã³ããªã³ãã£ã³ã°éºäŒåã»éºäŒå座ã®èª¿ç¯ã«é¢äžããŠããããšã瀺åãããŠããã |
4,874,465 | MECP2 | äœçšæ©åº | ããŠã¹Mecp2+/-ç¥çµå¹¹çŽ°èã§ã¯ãMecp2ã®çºçŸã®äœäžã«ãã£ãŠçŽ°èèåã®å¢å€§ãå¢æ®èœã®æ¬ é¥ãæªä¿®åŸ©ã®DNAæå·ã®èç©ãåŒãèµ·ãããããMecp2+/-现èã§ã¯ãDNAæå·è©Šè¬ã«ããåŠçåŸã«ã³ã³ãããŒã«çŽ°èãããå€ãã®æå·DNAãèç©ãã现èæ»ãèµ·ããããããªããMecp2ã®çºçŸã®äœäžã¯DNA修埩èœã®äœäžãåŒãèµ·ããããã®ããšãç¥çµæ©èœã®äœäžã«å¯äžããŠããå¯èœæ§ãé«ãã |
4,874,465 | MECP2 | æ§é | MECP2ã¯ã¡ãã«åCpGçµåãã¡ã€ã³ã¿ã³ãã¯è³ª(methyl-CpG-binding domain proteinãMBD)ãã¡ããªãŒã«å±ããããä»ã®ã¡ã³ããŒãšã¯ç°ãªãåºæã®ãã¡ã€ã³æ§æãæãããMECP2ã«ã¯85ã¢ããé
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4,874,465 | MECP2 | çŸæ£ã«ãããåœ¹å² | MECP2ãšçŸæ£ãšã®é¢ä¿ã¯ãäž»ã«ã¬ããçå矀ã§ã¿ãããMECP2éºäŒåã®æ©èœåªå€±(éå°çºçŸ)ããããã¯MECP2éè€çå矀(è±èªç)ã§ã¿ãããæ©èœç²åŸ(éå°çºçŸ)ã®ãããããšé¢é£ãããã®ã§ãããå€ãã®å€ç°ãMECP2éºäŒåã®çºçŸåªå€±ãšé¢é£ããŠãããã¬ããçå矀ã®æ£è
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4,874,465 | MECP2 | çŸæ£ã«ãããåœ¹å² | ã¬ããçå矀ã¯äž»ã«å¥³å
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4,874,465 | MECP2 | çŸæ£ã«ãããåœ¹å² | MECP2éºäŒåã®å€ç°ã¯ãäžæ¢ç¥çµç³»ã«åœ±é¿ãåã¶ä»ã®çŸæ£ã®æ£è
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4,874,465 | MECP2 | çžäºäœçš | MECP2ã¯SKI(è±èªç)ãNCOR1(è±èªç)ãšçžäºäœçšããããšã瀺ãããŠãããç¥çµçŽ°èã§ã¯ãMECP2ã®mRNAã¯miR-132(è±èªç)ãšçžäºäœçšããã¿ã³ãã¯è³ªã®çºçŸããµã€ã¬ã³ã·ã³ã°ããããšèããããŠãããè³å
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4,874,465 | MECP2 | MECP2ãšãã«ã¢ã³ | çºçäžã®ã©ããã®è³ã«ãããŠãMecp2ã¯æ§çäºåæ§ã®ç€ŸäŒè¡åã®çºéã調ç¯ããŠãããåºçåŸ24æéã®ã©ããã®è³ã®ææ¡äœãèŠåºäžéšã§ã¯Mecp2ã®çºçŸã¬ãã«ããªã¹ãšã¡ã¹ã§ç°ãªããããã®å·®ç°ã¯åºçåŸ10æ¥ã«ã¯èŠ³å¯ãããªããªãããªã¹ã¯ã¡ã¹ãããMecp2ã®çºçŸã¬ãã«ãäœãããã®ææã¯æ°çã©ããã®è³ãã¹ããã€ãæåæ§ã瀺ãæéãšäžèŽããŠãããåºçåŸæ°æ¥ésiRNAã«ãã£ãŠMecp2ã®çºçŸã¬ãã«ãäœäžãããããšã§ãªã¹ã®å¹Œè¥ã©ããã®ç€ŸäŒçéã³è¡å(social play behavior)ã¯ã¡ã¹ã®ã¬ãã«ã«ãŸã§äœäžããããã¡ã¹ã§ã¯åœ±é¿ã¯çããªãã |
4,874,465 | MECP2 | MECP2ãšãã«ã¢ã³ | Mecp2ã¯ãçºçäžã®ã©ããã®ææ¡äœã«ãããŠãã«ã¢ã³é¢é£è¡åã®åœ¢æãæ§å·®ã«éèŠãªåœ¹å²ãæãããŠããããªã¹ã®ã©ããã§ã¯Mecp2ã¯ã¢ã«ã®ãã³ããœãã¬ã·ã³(è±èªç)(AVP)ãã¢ã³ããã²ã³å容äœ(AR)ã®ç£çã調ç¯ããŠããããã§ããããã¡ã¹ã§ã¯ããããäœçšã¯ã¿ãããªããããœãã¬ã·ã³ã¯ã€ãã圢æ(pair bonding)ãsocial recognitionãªã©å€ãã®ç€ŸäŒè¡åã調ç¯ããŠããããšãç¥ãããŠãããäžè¬çã«ãªã¹ã®ã©ããã¯ææ¡äœã®ããœãã¬ã·ã³ã¬ãã«ãé«ãããåºçåŸ3æ¥éMecp2ã®çºçŸã¬ãã«ãäœäžãããããšã§ãã®è³é åã®ããœãã¬ã·ã³ã¯ã¡ã¹ã®ã¬ãã«ã«ãŸã§äœäžããæäœã§ããã®å¹æã¯æç¶ãããMecp2ã®çºçŸã¬ãã«ãsiRNAã«ãã£ãŠäœäžããããªã¹ã®ã©ããã§ã¯ARã泚å
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4,874,465 | MECP2 | 幌è¥æã¹ãã¬ã¹ | MECP2ã¯å¹Œè¥æã¹ãã¬ã¹(early life stressãELS)ãžã®å¿çã管çããŠãããELSã¯èŠåºäžéšã®å®€åæ žã®MECP2ã¿ã³ãã¯è³ªã®é«ãªã³é
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4,874,466 | æå¹³æ | null | æå¹³æ(ããã ãããã)ã¯ãæç¥çåèšæ¥œé¡ã«ãã£ãæãçŸåšã®æ°ååžã®äžéšã«ãããã |
4,874,466 | æå¹³æ | å°ç | éå³°å±±ã®åéºãå·Žå·æµåã«äœçœ®ããŠããã |
4,874,470 | èåæ | null | èåæ(ããããã)ã¯ãæç¥çåèšæ¥œé¡ã«ãã£ãæãçŸåšã®æ°ååžã®äžéšã«ãããã |
4,874,470 | èåæ | å°ç | 埡岳山åéºã®å±±å°ã«äœçœ®ããŠããã |
4,874,470 | èåæ | æŽå² | èŠåã転èšãããã®ã |
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