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【第9回】ゼロから始めるゲノム解析(R編)
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Naoto Imamachi
January 27, 2021
Science
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270
【第9回】ゼロから始めるゲノム解析(R編)
【第9回】ゼロから始めるゲノム解析(R編)の勉強会資料です。
https://bioalgorithms.connpass.com/event/201198/
Naoto Imamachi
January 27, 2021
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Transcript
θϩ͔Β࢝ΊΔήϊϜղੳʢ3ฤʣ $IBQUFS$I*1TFRBOBMZTJT /BPUP*NBNBDIJ
ຊͷิࢿྉ ˔ ͪ͜ΒͷϦϙδτϦʹɺ$I*1TFRղੳͷ 3ͷίʔυΛ·ͱΊͨ +VQZUFS/PUFCPPLΛ༻ҙ͠·ͨ͠ɻ IUUQTHJUIVCDPN*NBNBDIJODPNQVUBUJPOBMHFOPNJDTXJUIKVQZUFSMBCS ˔ Ϋϩʔϯ͢Δ PSϒϥβ͔Β +VQZUFS/PUFCPPLΛӾཡ͢Δ͜ͱՄೳͰ͢ɻ
ʢҎԼͷσΟϨΫτϦԼʹ /PUFCPPLΛஔ͍ͯ͠·͢ɻʣ IUUQTHJUIVCDPN*NBNBDIJODPNQVUBUJPOBMHFOPNJDTXJUIKVQZUFSMBCSUSFF NBJOOPUFCPPL
సࣸҼࢠΛհͨ͠Ҩࢠൃݱ੍ޚ 3FHVMBUPSZQSPUFJO%/"JOUFSBDUJPOT (Ref: http://www.mun.ca/biology/desmid/brian/BIOL3530/DEVO_10/devo_10.html) సࣸҼࢠʢ5'ʣ ˔ ଞͷҨࢠ܈Λ੍ޚ͢ΔҼࢠɻ ˔ ಛఆͷ%/"ྻʹ݁߹͢Δɻ
ʢ5'#4సࣸҼࢠ݁߹αΠτʣ ˔ ੍ޚ͢ΔҨࢠͷൃݱΛ ༠ಋ PS੍͢ΔػೳΛ࣋ͭɻ ˔ ৫ಛҟతͳҨࢠൃݱʹసࣸҼࢠ ͕د༩͍ͯ͠Δɻ ʢ,BEBVLF FUBM5JTTVFTQFDJGJDNJUPUJDCPPLNBSLJOHCZ IFNBUPQPJFUJDUSBOTDSJQUJPOGBDUPS("5"$FMM ʣ ˔ ͪΖΜɺసࣸҼࢠ͚ͩͰ৫ಛҟత ͳҨࢠൃݱ੍ޚΛઆ໌Ͱ͖ΔΘ͚Ͱ ͳ͍͕ʜɻ ʢ4POBXBOF "CIJKFFU3BKFOESB FUBM6OEFSTUBOEJOH UJTTVFTQFDJGJDHFOFSFHVMBUJPO$FMMSFQPSUT ʣ
ώετϯम০Λհͨ͠ΤϐδΣωςΟΫε੍ޚ 3FHVMBUPSZQSPUFJO%/"JOUFSBDUJPOT (Ref: https://www.abcam.com/epigenetics/histone-modifications) ώετϯम০ʢ)JTUPOF NPEJGJDBUJPOʣ ˔ ώετϯɺΫϩϚνϯͷओཁͳߏ Ͱ͋Γɺ%/"Λύοέʔδϯά
͢Δͱͯ͠ػೳ͢Δɻ ˔ ଟ༷ͳ༁ޙम০Λड͚ɺసࣸ׆ੑԽ ʹؔΘΔॏཁͳҼࢠͰ͋Δɻ ʢ%/"ͷޙఱతͳԽֶम০ʹΑΔ Ҩࢠൃݱ੍ޚͷ͜ͱΛɺ ΤϐδΣωςΟΫε੍ޚͱݺͿɻʣ ˔ ࠓճͷղੳʹग़ͯ͘Δώετϯͨͪ ˓ ),NF ˓ ),NF
(Li, Bing, Michael Carey, and Jerry L. Workman. "The role
of chromatin during transcription." Cell 128.4 (2007): 707-719.) ώετϯम০ͷ%/"্ͷ ˔ ),NF ˓ 544ʢసࣸ։࢝Ґஔʣͷपลʹ 4IBSQͳϐʔΫ͕ݟΒΕΔɻ ˔ ),NF ˓ (FOFCPEZʢҨࢠྖҬʣશମ ʹ#SPBEͳϐʔΫ͕ݟΒΕΔɻ ʢͦͷଞʣ$I*1TFRͷσʔλͱ͍͑ɺ 3/"ϙϦϝϥʔθͷ ˔ 1PMᶘ ˓ 544ʢసࣸ։࢝Ґஔʣͷपลʹ 4IBSQͳϐʔΫ͕ݟΒΕΔɻ ώετϯम০Λհͨ͠ΤϐδΣωςΟΫε੍ޚ 3FHVMBUPSZQSPUFJO%/"JOUFSBDUJPOT
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ʢ$I*1ʣ ˔ ͬ͘͟Γ͍͏ͱɺλϯύΫ࣭ʢ5' )JTUPOFNPEJGJDBUJPO 1PMᶘͳͲʣ͕ಛఆͷ%/"ྖҬʹ݁߹ ͍ͯ͠Δ͔Ͳ͏͔Λ֬ೝ͢ΔͨΊͷ࣮ݧख๏Ͱ͢ʢղੳʹ R1$3ͳͲ͕ΘΕΔʣɻ
ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ ˔ λϯύΫ࣭ʢ5' )JTUPOFNPEJGJDBUJPO 1PMᶘͳͲʣ͕݁߹͍ͯ͠Δ%/"ྖҬΛγʔέϯε͠ɺ ରͷλϯύΫ࣭ͷ%/"݁߹ྖҬΛήϊϜϫΠυʹಉఆ͢ΔͨΊͷ࣮ݧख๏Ͱ͢ɻ (Ref: https://www.genewiz.com/Public/Resources/NGS-Platforms/)
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL ϗϧϜΞϧσώυΛ༻͍ͯɺλϯύΫ࣭ͱ%/"Λڞ༗݁߹ ͤ͞ΔʢDSPTTMJOLʣɻ %/"ྻ
λϯύΫ ࣭
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL %/" 'SBHNFOUBUJPO %/"ྻ
λϯύΫ ࣭ Ի PS߬ૉʹΑΔ EJHFTUJPOʹΑΓɺ dCQఔ ͷ%/"அยʹͤΜஅ͢Δʢ%/"'SBHNFOUBUJPOʣɻ
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL %/" 'SBHNFOUBUJPO %/"ྻ
λϯύΫ ࣭ ରͷλϯύΫ࣭ʹର͢Δಛҟతͳ߅ମΛ༻͍ͯɺ%/"ͱ ݁߹͍ͯ͠ΔλϯύΫ࣭Λ *1͢Δʢ*NNVOPQSFDJQJUBUJPOʣɻ ߅ମ *NNVOPQSFDJQJUBUJPO ʢ*1ʣ
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL %/" 'SBHNFOUBUJPO DSPTTMJOLΛղআͨ͠ޙɺήϧిؾӭಈ
PS࣓ؾϏʔζͳͲ ʹΑΔαΠζηϨΫγϣϯΛߦ͏ɻ IUUQTXXXCFDLNBOKQSFBHFOUTHFOPNJDDMFBOVQ BOETJ[FTFMFDUJPOTJ[FTFMFDUJPO *NNVOPQSFDJQJUBUJPO ʢ*1ʣ 4J[FTFMFDUJPO
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL %/" 'SBHNFOUBUJPO *NNVOPQSFDJQJUBUJPO
ʢ*1ʣ 4J[FTFMFDUJPO 1$3"NQMJGJDBUJPO 1$3ͰతͷྻΛ૿෯ɻ
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ $SPTTMJOL %/" 'SBHNFOUBUJPO *NNVOPQSFDJQJUBUJPO
ʢ*1ʣ 4J[FTFMFDUJPO 1$3"NQMJGJDBUJPO %FFQTFRVFODJOH
$I*1TFRͱʁ .FBTVSJOHQSPUFJO%/"JOUFSBDUJPOTXJUI$I*1TFR ΫϩϚνϯ໔Ӹ߱๏ º ࣍ੈγʔέϯεʢ$I*1TFRʣ ˔ *1ͨ͠λϯύΫ࣭ͷ݁߹αΠτͷΛௐΔ͜ͱ͕Ͱ͖·͢ɻ )BOTTFO -BST-1
FUBM5JTTVFTQFDJGJD$5$'rDPIFTJONFEJBUFEDISPNBUJOBSDIJUFDUVSFEFMJNJUTFOIBODFS JOUFSBDUJPOTBOEGVODUJPOJOWJWP/BUVSFDFMMCJPMPHZ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ ߅ମͷಛҟੑ ˔ λʔήοτͱͳΔλϯύΫ࣭ʹର͢Δ߅ମͷಛҟੑ͕͍߹ɺ %/"ྻ͕ඇಛҟతʹ *1͞Ε͖ͯͯ͠·͍ɺ͜ΕΒ͕ϊΠζͱͳΔɻ ˠ࠷ѱͷ߹ɺσʔλΛਖ਼͘͠ղੳͰ͖ͣʹؒҧͬͨ݁Λಋ͖ग़͢ةݥੑ͕͋Δɻ ˔
ࡏੑλϯύΫ࣭ʢ&OEPHFOPVTQSPUFJOTʣʹର͢Δಛҟੑͷߴ͍߅ମ͕ݟ͔ͭΒͳ͍ ߹ɺ)"'-"(ͳͲͷλά͖ͷλϯύΫ࣭ʢ&YPHFOPVTQSPUFJOTʣΛൃݱ ͤͯ͞ *1͢Δख͋Δɻ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ ߅ମͷಛҟੑ ˔ &/$0%&ϓϩδΣΫτͷ߅ମσʔλ ͔ΒɺಛҟੑΛνΣοΫࡁΈͷ߅ମ ϦετΛऔಘՄೳʢΒ͍͠ʣɻ ʢ-BOEU .BSJOPW
,VOEBKF FUBMl$I*14FR (VJEFMJOFTBOE1SBDUJDFTPGUIF&/$0%&BOE NPE&/$0%&$POTPSUJBz (FOPNF3FT r ʣ ˔ ࣮ࡍͷ߅ମσʔλͷࢀরํ๏ͪ͜Βɻ ʢ&/$0%&ϓϩδΣΫτͷ/(4σʔλΛ׆༻͢Δ ͍Ζ͍Ζࢼͯ͠ΈΔʣ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ ࣍ੈγʔέϯεͰಡΜͩϦʔυ͕গͳ͗͢ΔͱɺͦͷޙͷσʔλղੳʢQFBLDBMMʣ ͕͘͠ͳΓ·͢ɻ ˔ ώτͷ߹ɺd.ϦʔυʢdສϦʔυʣҎ্͕ඞཁͱ͞Ε͍ͯ·͢ɻ ʢͪΖΜɺࡉ๔छ
*1͢ΔλϯύΫ࣭ʹΑͬͯҟͳΓ·͢ʣ ʢ+VOH -VRVFUUF )P FUBMl*NQBDUPG4FRVFODJOH%FQUIJO$I*14FR&YQFSJNFOUTz /VDMFJD"DJET3FT Fʣ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ ̎܈ؒൺֱ͍ͨ͠߹ɺҎԼͷϊʔϚϥΠζํ๏͕͋Δɻ ʢྫ͑ɺࢎૉঢ়ଶ)ZQPYJB/PSNPYJBͰ )*'$I*1TFRͷσʔλΛऔͬͨ߹ʣ ˓ 4DBMFOPSNBMJ[BUJPO
˓ 3PCVTUOPSNBMJ[BUJPO ˓ #BDLHSPVOEOPSNBMJ[BUJPO ˓ &YUFSOBMOPSNBMJ[BUJPO ਤ $IJQDIJQͷσʔλͰ͢ɻ ʢ$I*1TFRͷ͍͍ײ͡ͷσʔλݟ͔ͭΒͣʜʣ ʢ9JB 9JBPCP FUBM*OUFHSBUJWFBOBMZTJTPG)*' CJOEJOHBOEUSBOTBDUJWBUJPOSFWFBMTJUTSPMFJO NBJOUBJOJOHIJTUPOFNFUIZMBUJPOIPNFPTUBTJT 1SPDFFEJOHTPGUIF/BUJPOBM"DBEFNZPG 4DJFODFT
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ ̎܈ؒൺֱ͍ͨ͠߹ɺ 0SMBOEP %BWJE" FUBM2VBOUJUBUJWF$I*1 4FROPSNBMJ[BUJPOSFWFBMTHMPCBMNPEVMBUJPOPG
UIFFQJHFOPNF$FMMSFQPSUT ઢͱࠇઢͷࠩΛݕग़͍ͨ͠ɻ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ 4DBMFOPSNBMJ[BUJPO ˔ ૯ϦʔυͰϦʔυΧϯτΛׂΔํ๏ʢ$1. 31,.ͳͲʣ ˔
*1ޮ͕ಉ͡Ͱ͋Δ͜ͱ͕લఏɻ ˔ ҟͳΔλϯύΫ࣭ͩͱ *1ޮ͕ҟͳΔͨΊɺҟͳΔλϯύΫ࣭ͷ $I*1TFR σʔλΛൺֱ͢Δ߹ෆదͳϊʔϚϥΠζํ๏Ͱ͋Δɻ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ 3PCVTUOPSNBMJ[BUJPO ˔ ̎܈ؒͰରͷλϯύΫ࣭ͷେͷήϊϜ ྖҬͷ݁߹ੑ͕มԽ͠ͳ͍͜ͱ͕ લఏɻ
ʢ3/"TFRͷϊʔϚϥΠζʹࣅͯΔʣ ˔ มԽͷͳ͍ྖҬͷશϦʔυΛ TDBMFGBDUPS ͱͯ͠༻͍ͯɺશମͷิਖ਼Λߦ͏ɻ ˔ πʔϧ ˓ ."OPSN ˓ ."OPSNʢ࠷৽όʔδϣϯʣ 4IBP ;IBOH :VBO 0SLJO BOE8BYNBOl."OPSN"3PCVTU .PEFMGPS2VBOUJUBUJWF$PNQBSJTPOPG$I*14FR%BUB4FUTz (FOPNF#JPM 3 5V 4IJRJ FUBM."OPSN GPSRVBOUJUBUJWFMZDPNQBSJOHHSPVQTPG$I*1 TFRTBNQMFT(FOPNF3FTFBSDI .MPH TBNQMFTBNQMFϦʔυ "º MPH TBNQMFº TBNQMFϦʔυ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ #BDLHSPVOEOPSNBMJ[BUJPO ˔ ήϊϜྖҬΛҎԼͷ̎छྨʹྨͰ͖ΔͱԾఆɻ ˓ όοΫάϥϯυྖҬ
˓ γάφϧྖҬʢϐʔΫྖҬλϯύΫ࣭͕݁߹͍ͯ͠ΔྖҬʣ ˔ όοΫάϥϯυྖҬͷϦʔυΛ TDBMFGBDUPSͱͯ͠༻͍ͯɺ શମͷิਖ਼Λߦ͏ɻ ˔ πʔϧ ˓ /$*4 -JBOH BOE,FMF㶆l/PSNBMJ[BUJPOPG$I*14FR%BUBXJUI$POUSPMz #.$#JPJOGPSNBUJDT "VHVTU όοΫάϥϯυྖҬ όοΫάϥϯυͷϦʔυ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 4FRVFODFEFQUIʢγʔΫΤϯεͷਂ͞ʣ ˔ &YUFSOBMOPSNBMJ[BUJPO ˔ ֎དྷछ PSਓతͳ TQJLFJOΫϩϚνϯ%/"ΛαϯϓϧʹࠞͥΔɻ
˔ ҰఆྔͰ͋Δ͜ͱ͕Θ͔͍ͬͯΔͦΕΒͷ%/"ྔΛج४ͱͯ͠ σʔλΛิਖ਼Ͱ͖Δɻ #POIPVSF #PVOPWB #FSOBTDPOJ FUBMl2VBOUJGZJOH$I*14FR%BUB"4QJLJOH.FUIPE1SPWJEJOHBO *OUFSOBM3FGFSFODFGPS4BNQMFUP4BNQMF/PSNBMJ[BUJPOz (FOPNF3FT r 0SMBOEP %BWJE" FUBM2VBOUJUBUJWF$I*14FROPSNBMJ[BUJPOSFWFBMTHMPCBMNPEVMBUJPOPGUIFFQJHFOPNF $FMMSFQPSUT
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ 1$3ʹΑΔෳʢ1$3EVQMJDBUJPOʣ ˔ 1$3ʹΑΔ%/"ෳͷաఔͰ ($DPOUFOUͷόΠΞε͕ੜ͡Δ͜ͱ͕͋Δɻ ˔ ͜ͷόΠΞε͕ QFBLDBMMJOHʹӨڹ͠ɺGBMTFQPTJUJWFͳϐʔΫ͕ಉఆ͞Εͯ
͠·͏Մೳੑ͕͋Δʢ($DPOUFOUͷภΓͷิਖ਼͕ඞཁʣɻ 5FOH BOE*SJ[BSSZl"DDPVOUJOHGPS(D$POUFOU#JBT3FEVDFT4ZTUFNBUJD&SSPSTBOE#BUDI&GGFDUTJO $IJQ4FR%BUBz (FOPNF3FTFBSDI ಉ͡σʔλΛऔ͍ͬͯΔ͕ͣɺ ($CJBTͷӨڹͰαϯϓϧؒͰ݁Ռ͕ େ͖͘ҟͳΔʂ
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͓͕͔͔ۚΔʯͳͷͰɺ༧ࢉͱ૬ஊʹͳΔɻ
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$I*1TFRσʔλͷήϊϜͷϚοϐϯά લॲཧ 1SFQSPDFTTJOH$I*1EBUB ˔ &/$0%&ϓϩδΣΫτʹ͓͚Δ $I*1TFRղੳύΠϓϥΠϯʢࢀߟʣ ˓ )JTUPOF$I*1TFR%BUB4UBOEBSETBOE1SPDFTTJOH1JQFMJOF ˙
IUUQTXXXFODPEFQSPKFDUPSHDIJQTFRIJTUPOF ˓ 5SBOTDSJQUJPO'BDUPS$I*1TFR%BUB4UBOEBSETBOE1SPDFTTJOH1JQFMJOF ˙ IUUQTXXXFODPEFQSPKFDUPSHDIJQTFRUSBOTDSJQUJPO@GBDUPS ˔ ιʔείʔυ ˓ &/$0%&%$$DIJQTFRQJQFMJOF&/$0%&$I*1TFRQJQFMJOF EY8%-ʢϫʔΫϑϩʔݴޠʣͰύΠϓϥΠϯ͕·Ε͍ͯΔɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ $I*1RVBMJUZDPOUSPM ˔ $I*1TFRσʔλͷ࣭ΛνΣοΫ͠ɺ࣭ͷ͍σʔλΛಛఆ͢Δɻ ˔ ҎԼɺओͳ̐εςοϓ αϯϓϧؒͷ૬ؔΛͬͨΫϥελϦϯά ˔
#JPMPHJDBMSFQMJDBUFTಉ࢜ͷ૬͕ؔߴ͘ͳΔ͔Ͳ͏͔νΣοΫɻ ήϊϜϒϥβ্ͰͷσʔλՄࢹԽ ˔ ੜσʔλΛՄࢹԽͯ͠ɺϦʔυΛνΣοΫ͢Δɻ %/"ϑϥάϝϯτͷฏۉͷಉఆ ˔ ϐʔΫΛݕग़͢Δࡍͷύϥϝʔλͱͯ͠༻͢Δɻ ($CJBTͷՄࢹԽ ˔ $I*1FOSJDINFOUͱ ฏۉ ($DPOUFOUΛϓϩοτ αϯϓϧؒͰΛൺֱɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 5IFEBUB ˔ ͜͜Ͱѻ͏σʔλ ˓ సࣸҼࢠʢ5'ʣ$5$' 4.$ ;/' QPMᶘ
3/"QPMZNFSBTF ˓ )JTUPOFNPEJGJDBUJPO),NF ),NF )LBD )LNF ˓ ֤छ *OQVUαϯϓϧ
QPMᶘ QPMᶘ $I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4BNQMFDMVTUFSJOH αϯϓϧؒͷ૬ؔΛͬͨΫϥελϦϯά ˔
CQ͝ͱͷ XJOEPXʹ۠ͬͯɺϦʔυΧϯτ $1.Λܭࢉɻ $1.ສϦʔυ͋ͨΓͷϦʔυʢϦʔυΧϯτº ૯Ϧʔυ ʣ ˔ αϯϓϧશͯͷ $1.ͷϖΞؒͷ૬ؔΛܭࢉ͠ՄࢹԽɻ CQ QPMᶘ $1. $1. $1. $1. $1. $1. $1. QPMᶘ $1. $1. $1. $1. $1. $1. $1. R2 = 0.99
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˔ ͭ·Γɺ4.$ͱ $5$'ͷ $I*1TFRͷσʔλؒʹڧ͍૬͕ؔݟΒΕΔͣɻ )BOTTFO -BST-1 FUBM5JTTVFTQFDJGJD$5$'rDPIFTJONFEJBUFEDISPNBUJOBSDIJUFDUVSFEFMJNJUTFOIBODFS JOUFSBDUJPOTBOEGVODUJPOJOWJWP/BUVSFDFMMCJPMPHZ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4BNQMFDMVTUFSJOH αϯϓϧؒͷ૬ؔΛͬͨΫϥελϦϯά ˔ αϯϓϧશͯͷ $1.ͷϖΞؒͷ૬ؔΛܭࢉ͠ՄࢹԽɻ σʔλ͔Βݴ͑Δ͜ͱ ˔
$5$'@S $5$'@S 4.$@S ͷؒʹ ڧ͍૬͕ؔݟΒΕΔʢఆ௨Γʣɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4BNQMFDMVTUFSJOH αϯϓϧؒͷ૬ؔΛͬͨΫϥελϦϯά ˔ αϯϓϧશͯͷ $1.ͷϖΞؒͷ૬ؔΛܭࢉ͠ՄࢹԽɻ σʔλ͔Βݴ͑Δ͜ͱ ˔
$5$'@S $5$'@S 4.$@S ͷؒʹ ڧ͍૬͕ؔݟΒΕΔʢఆ௨Γʣɻ ˔ ҰํͰɺ4.$@Sͱ *OQVUσʔλͷؒʹ ൺֱతڧ͍૬͕ؔݟΒΕΔɻ ˠ4.$@Sͷσʔλ *1ʹΑΔ &OSJDINFOUͷ ͍ɺϊΠζͷଟ͍αϯϓϧͰ͋Δͱߟ͑ΒΕΔɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 7JTVBMJ[BUJPOJOUIFHFOPNFCSPXTFS ήϊϜϒϥβ্ͰͷσʔλՄࢹԽ ओͳήϊϜϒϥβ ˔ *(7σεΫτοϓΞϓϦʢΠϯετʔϧඞཁʣɻ ˔ 6$4$(FOPNF#SPXTFS8FCΞϓϦʢΠϯετʔϧෆཁʣɻ
˔ (WJ[3্ͰͷՄࢹԽ ˠࠓίϨΛ͍·͢ʂ ϚοϐϯάσʔλʢPSήϊϜϒϥβͰՄࢹԽ͢ΔͨΊͷΧόϨοδσʔλʣ ˔ #". ˔ CJH8JH ˔ #&% ˔ #FE(SBQI ͳͲͳͲɻ (WJ[ʹΑΔՄࢹԽ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 1MVTBOENJOVTTUSBOEDSPTTDPSSFMBUJPO %/"ͷΫϩε૬ؔ $I*1TFRͷϚοϐϯά͞ΕͨϦʔυͷύλʔϯ ˔ Ұൠతʹɺ$I*1TFRͷϦʔυɺ͔ΒಡΜͩ߹ ɺ
͔ΒಡΜͩ߹ ʹϚοϐϯά͞ΕΔɻ *1͞Εͨ%/"ྻ 'PSXBSEϦʔυ 3FWFSTFϦʔυ λϯύΫ࣭ͷ݁߹ྖҬʹɺ ̎ͭͷϐʔΫʢࢁʣ͕Ͱ͖ΔΠϝʔδɻ ʢࠨͷਤތுͯ͠ॻ͍ͯ·͢ʣ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 1MVTBOENJOVTTUSBOEDSPTTDPSSFMBUJPO %/"ͷΫϩε૬ؔ +BDDBSEʢྨࣅʣू߹Λੵू߹Ͱׂͬͨ ˔ ϦʔυΛ dCQͷൣғͰγϑτͤ͞ɺ+BDDBSEʢdʣΛܭࢉɻ
'PSXBSEϦʔυ ༝དྷͷϐʔΫ 3FWFSTFϦʔυ ༝དྷͷϐʔΫ খ େ +BDDBSE ʲٕज़ղઆʳू߹ͷྨࣅ +BDDBSEɼ%JDFɼ4JNQTPO
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 1MVTBOENJOVTTUSBOEDSPTTDPSSFMBUJPO %/"ͷΫϩε૬ؔ +BDDBSEʢྨࣅʣू߹Λੵू߹Ͱׂͬͨ ˔ ϦʔυΛ dCQͷൣғͰγϑτͤ͞ɺ+BDDBSEʢdʣΛܭࢉɻ
%/"ྻ λϯύΫ࣭ dCQ *1ͨ͠ %/"GSBHNFOU͕ ͍͍ͩͨ CQͰ͋Δ͜ͱ͕Θ͔Δɻ ˠ͜ͷΛ QFBLDBMM࣌ʹ͏ɻ ·ͨɺ͜ͷ͕ Ͱͳ͍ ୯ௐʹݮগͯ͠ ͍ͳ͍ͷͰɺ$I*1TFRσʔλ͕ಛఆͷ%/" ྻΛదʹ *1Ͱ͖͍ͯΔͱஅ͢Δɻ ˒ ޙͰɺ$POUSPMσʔλͰࢼͯ͠ΈΑ͏ɻ
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($DPOUFOUʹภΓ͕ͳ͍͔Ͳ͏͔νΣοΫ͢Δɻ ˔ CQ͝ͱͷ XJOEPXʹ۠ͬͯɺ($ؚ༗Λܭࢉ͢Δɻ QPMᶘ QPMᶘ CQ ($ DPOUFOU $1. $1. $1. $1. $1. $1. $1. $1.
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ ($CJBTRVBOUJGJDBUJPO ($όΠΞεͷఆྔ ˔ 1$3ʹΑΔ%/"ෳͷաఔͰ ($DPOUFOUͷόΠΞε͕ੜ͡Δ͜ͱ͕͋Δɻ ˔ ͜͜ͰɺαϯϓϧؒͰ
($DPOUFOUʹภΓ͕ͳ͍͔Ͳ͏͔νΣοΫ͢Δɻ ˔ CQ͝ͱͷ XJOEPXʹ۠ͬͯɺ($ؚ༗Λܭࢉ͢Δɻ σʔλ͔Βݴ͑Δ͜ͱ ˔ ($DPOUFOU͕ҟৗʹ͍ PSߴ͍ྖҬ 1$3PSαΠζηϨΫγϣϯ͕͏·͘Ͱ͖ ͍ͯͳ͍ʢภΓ͕͋Δʣɻ ˔ ͦͦɺ͜Ε ($DPOUFOU͡Όͳ͍ʁ ʢ$Q(JTMBOEΛؚΉؔͰɺ͙ Β͍ʹͳΔͣɻʣ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ ($CJBTRVBOUJGJDBUJPO ($όΠΞεͷఆྔ ˔ 1$3ʹΑΔ%/"ෳͷաఔͰ ($DPOUFOUͷόΠΞε͕ੜ͡Δ͜ͱ͕͋Δɻ ˔ ͜͜ͰɺαϯϓϧؒͰ
($DPOUFOUʹภΓ͕ͳ͍͔Ͳ͏͔νΣοΫ͢Δɻ ˔ CQ͝ͱͷ XJOEPXʹ۠ͬͯɺ($ؚ༗Λܭࢉ͢Δɻ ࢲͷٙ ˔ ͜Εɺ($DPOUFOU͡Όͳͯ͘ɺ ($Ԙجͷग़ݱසΛݟͯΔ͚ͩ͡Όʜʁ ˔ ҎԼͷܭࢉ͔ࣜΒ LC͋ͨΓͷ ($DPOUFOUΛܭࢉ͢Δͷ͕ਖ਼͍ͣ͠ɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ ($CJBTRVBOUJGJDBUJPO ($όΠΞεͷఆྔ ˔ 1$3ʹΑΔ%/"ෳͷաఔͰ ($DPOUFOUͷόΠΞε͕ੜ͡Δ͜ͱ͕͋Δɻ ˔ ͜͜ͰɺαϯϓϧؒͰ
($DPOUFOUʹภΓ͕ͳ͍͔Ͳ͏͔νΣοΫ͢Δɻ ˔ CQ͝ͱͷ XJOEPXʹ۠ͬͯɺ($ؚ༗Λܭࢉ͢Δɻ #JPMPHJDBMSFQMJDBUFTؒͰͷൺֱ ˔ ͍͍ͩͨɺ͕ࣅ௨͍ͬͯΔ͔Βɺ ($όΠΞε͕ͳ͍ͱஅɻ ˔ $1.αϯϓϧؒͰΒͭ͘ͷͰߟྀ ͠ͳͯ͘ྑͦ͞͏ɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4FRVFODFSFBEHFOPNJDEJTUSJCVUJPO ֤ϦʔυͷήϊϜ্Ͱͷ ৼΓฦΓ (Li, Bing, Michael Carey,
and Jerry L. Workman. "The role of chromatin during transcription." Cell 128.4 (2007): 707-719.) ώετϯम০ͷ%/"্ͷ ˔ ),NF ˓ 544ʢసࣸ։࢝Ґஔʣͷपลʹ 4IBSQͳϐʔΫ͕ݟΒΕΔɻ ˔ ),NF ˓ (FOFCPEZʢҨࢠྖҬʣશମ ʹ#SPBEͳϐʔΫ͕ݟΒΕΔɻ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4FRVFODFSFBEHFOPNJDEJTUSJCVUJPO ֤ϦʔυͷήϊϜ্Ͱͷ ˔ 544 &YPO *OUSPO JOUFSHFOJDͲͷྖҬʹϦʔυ͕͍ͯ͠Δͷ͔ݟͯΈΔɻ
˔ Ϧʔυ͕ෳͷྖҬʹ·͕ͨΔ߹ɺҎԼͷ༏ઌॱʹΧςΰϦʔ͚͢Δɻ ˓ 544FYPOJOUSPOJOUFSHFOJD ˔ Ҩࢠใͱͯ͠ɺ&OTFNCMʢ(&/$0%&ʣͷσʔλΛ༻͍Δɻ ˓ ίϨʹ߆Δඞཁͳ͘ɺ3FG4FRͳͲ͖ͳͭΛ͍͍͑ɻ ҨࢠྖҬ
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4FRVFODFSFBEHFOPNJDEJTUSJCVUJPO ֤ϦʔυͷήϊϜ্Ͱͷ ˔ 544 &YPO *OUSPO JOUFSHFOJDͲͷྖҬʹϦʔυ͕͍ͯ͠Δͷ͔ݟͯΈΔɻ
˔ Ϧʔυ͕ෳͷྖҬʹ·͕ͨΔ߹ɺҎԼͷ༏ઌॱʹΧςΰϦʔ͚͢Δɻ ˓ 544FYPOJOUSPOJOUFSHFOJD σʔλ͔Βݴ͑Δ͜ͱ ˔ *OUFSHFOJDྖҬʹϦʔυ͕ଟ͍ɻ ˔ ͋͑ͯݴ͏ͳΒɺ ˓ $5$'&YPO*OUSPO ˓ ),NF544 ˓ ;/' 544 ͷ͕ଟ͍ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLDBMMJOH ͍͟ɺQFBLDBMMʂ ˔ ͜Ε·Ͱͷ2$ͷ݁Ռ͔Βɺ$I*1TFRͷσʔλ࣭ʹͳ͍ͱஅ͞Εͨ߹ɺ ԼྲྀͷղੳʹਐΉ͜ͱ͕Ͱ͖Δɻ ˔ $I*1σʔλͱ
$POUSPMσʔλͷΧόϨοδσʔλΛར༻ͯ͠ɺλϯύΫ࣭͕݁߹ͯ͠ ͍ΔྖҬΛݟ͚ͭΔʢQFBLDBMMʣɻ ˔ ͜͜ͰɺOPSN3 #JPDPOEVDUPSύοέʔδΛར༻͠·͢ɻ ˔ ޙड़͢ΔɺTIBSQPSCSPBEϐʔΫͷ྆ํΛݕग़Ͱ͖ΔπʔϧͰ͢ɻ ˔ ͜ͷπʔϧɺ#JPMPHJDBMSFQMJDBUFTʹରԠ͍ͯ͠·ͤΜɻ ˒ 3ʹͩ͜ΘΒͳ͚Εɺ."$4ͳͲͷ QFBLDBMMFSͨ͘͞Μ͋Γ·͢ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 5ZQFTPG$I*1TFRFYQFSJNFOUT ˔ ରͷλϯύΫ࣭ͷੑ࣭ʹΑͬͯɺ$I*1TFRσʔλओʹҎԼͷ̏छྨʹྨ͞ΕΔɻ 4IBSQϐʔΫ ˔
CQఔͷ͍ήϊϜྖҬ͔ΒͳΔϐʔΫɻ ˔ ओʹɺసࣸҼࢠώετϯम০ʢ),NFͳͲʣ͕֘͢Δɻ #SPBEϐʔΫ ˔ CQʹΔ͍ൣғͷήϊϜྖҬ͔ΒͳΔϐʔΫɻ ˔ ओʹɺ(FOFCPEZʹ͢Δ ),NFɺϙϦίʔϜෳ߹ମʹ͢Δ ),NF ͳͲ͕֘͢Δɻ .JYFEϐʔΫ ˔ ্هͷϐʔΫ͕ࠞࡏ͢Δέʔεɻ ˔ 3/"1PMZNFSBTF͕ͦΕʹ֘͢Δɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 5ZQFTPG$I*1TFRFYQFSJNFOUT ˔ πʔϧͷબΛݟۃΊΔ࠷༗ޮͳखஈɺσʔλΛՄࢹԽ͢Δ͜ͱɻ ˔ ͜͜Ͱɺ3ΛͬͯɺҎԼͷ $I*1TFRαϯϓϧΛͦΕͧΕՄࢹԽͯ͠ΈΔɻ ˓
),NF 4IBSQ ˓ ),NF #SPBE ˓ 1PM .JYFE ˔ ),NF544ʹ TIBSQͳϐʔΫ͕֬ೝͰ͖Δɻ ˔ ),NFHFOFCPEZશମʹ FOSJDI͍ͯ͠Δͷ͕ ֬ೝͰ͖Δɻ ˔ 1PM544ྖҬʹ TIBSQͳϐʔΫɺHFOFCPEZશମ ʹ FOSJDI͍ͯ͠Δͷ͕֬ೝͰ͖Δ NJYFE ɻ 544
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLDBMMJOH4IBSQQFBLT ˔ 4IBSQϐʔΫͷݕग़ ˓ ),NF ˔ *OQVUͱ
$I*1αϯϓϧͷ $1.Λൺֱɻ ˔ ઢΑΓ্ͷɺ$I*1αϯϓϧͷ΄͏ ͕ FOSJDI͍ͯ͠Δɻ ˔ ઢΑΓԼͷɺ*OQVUαϯϓϧͷ΄͏ ͕ FOSJDI͍ͯ͠Δɻ ͱ͍͏͜ͱΛࣔ͢ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLDBMMJOH4IBSQQFBLT ˔ 4IBSQϐʔΫͷݕग़ ˓ ),NF ˔ OPSN3ϥΠϒϥϦΛ༻͍ͯɺϐʔΫΛಉఆ͢Δɻ
˔ ɿಉఆ͞ΕͨϐʔΫɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLDBMMJOH4IBSQQFBLT ˔ 4IBSQϐʔΫͷݕग़ ˓ ),NF ˔ OPSN3ϥΠϒϥϦΛ༻͍ͯɺϐʔΫΛಉఆ
ˠ(WJ[ͰՄࢹԽ͢Δɻ ˔ ॎ࣠ͷ͕ଗ͍ͬͯͳ͍ͷͰɺΘ͔Γ ʹ͍͕͘ɺόοΫάϥϯυͰ͋Δ *OQVUʹରͯ͠ɺ$5$'σʔλͰ TIBSQͳϐʔΫཱ͕͍ͬͯΔ͜ͱ͕Θ ͔Δɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLDBMMJOH#SPBESFHJPOT ˔ #SPBEϐʔΫͷݕग़ ˓ ),NF ˔ OPSN3ϥΠϒϥϦΛ༻͍ͯɺϐʔΫΛಉఆ͢Δ
ˠ(WJ[ͰՄࢹԽ͢Δɻ ˔ ਫ৭͕ಉఆ͞ΕͨϐʔΫɻ ˔ ҨࢠྖҬʹରͯ͠ɺCSPBEͳϐʔΫ ʹͳ͍ͬͯΔ͜ͱ͕Θ͔Δɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM1FSDFOUBHFPGSFBETJOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϦʔυͷ͏ͪϐʔΫྖҬʹΊΔׂ߹ʣ ˓ *OQVUαϯϓϧͷ TFRVFODFEFQUI͕ेͰͳ͘ɺ͜ͷ߹ɺޡͬͯϐʔΫΛ ݕग़ͯ͠͠·͏έʔε͕͋Δɻ
˓ *OQVUͱ $I*1αϯϓϧʹ͓͚Δɺઌ΄Ͳಉఆͨ͠ϐʔΫྖҬͷ FOSJDINFOUΛ ܭࢉ͢Δɻ ˔ ϐʔΫྖҬʹؚ·ΕΔϦʔυͷׂ߹͕ *OQVUΑΓ ),NFͷ΄͏͕ଟ͍ɻ ˠ$I*1αϯϓϧͷ࣭ѱ͘ͳͦ͞͏ɻ ˔ Ϧʔυͷׂ߹ɺ߅ମͷ࣭ʹґଘͯ͠ ͍Δɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ϞνʔϑྻͷΛௐΔ
ϐʔΫྖҬͷதԝʹϞνʔϑྻ͕ଘࡏ͢Δͣ ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ $5$'ͷϞνʔϑྻ͕ϐʔΫྖҬʹؚΉׂ߹Λܭࢉͯ͠Έ·͠ΐ͏ɻ
˔ ͜͜Ͱɺ.PUJG%#ͱݺΕΔ #JPDPOEVDUPSͷσʔλϕʔεΛར༻͠·͢ɻ ˔ .PUJG%#ෳͷϞνʔϑྻσʔλϕʔεΛूԽͨ͠ͷͰ͢ɻ ˔ ҎԼɺ$5$'ͷϞνʔϑྻͷ֤Ԙجͷग़ݱසͷදͰ͢ɻ ˔ ্هͷϚτϦΫε ߦྻ ɺసࣸҼࢠ͕ରͷྻʹ݁߹͢Δ͔Ͳ͏͔ɺͦͷ֬Λܭࢉ͢ΔͨΊʹΘΕ·͢ɻ ˔ ͔͜͜͠͠Ͱҙ͠ͳ͍ͱ͍͚ͳ͍͜ͱɺόοΫάϥϯυͷ֬Λߟྀ͍ͯ͠ͳ͍ͱ͍͏Ͱ͢ɻήϊϜྻ ͣͭۉʹ " 5 ( $ͷ֤Ԙج͕͍ͯ͠ΔΘ͚Ͱͳ͘ɺ͋ΔఔͷภΓ͕͋ΔͨΊɺόοΫάϥϯυͷ֬ Λߟྀ͢Δඞཁ͕͋Γ·͢ʢࠓճແࢹͯ͠ɺͣͭͱ͓͖ͯ͠·͢ʣɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ ઌ΄ͲͷϚτϦΫε͔ΒɺόοΫάϥϯυΛߟྀͨ͠είΞΛܭࢉ͢ΔࣜҎԼ
ͷͱ͓ΓͰ͢ʢ͍ɺখ͘͠ॻ͍ͯ·͕͢୯७ͳׂΓࢉͰ͢ʜʣɻ ˔ #L όοΫάϥϯυͷԘجͷग़ݱ֬ ˔ 1J L Ϟνʔϑྻͷ֤Ԙجͷग़ݱ֬ 1 2 3 4 A 0.17 0.23 0.29 0.10 C 0.42 0.28 0.30 0.32 G 0.25 0.23 0.26 0.27 T 0.16 0.27 0.15 0.31 1 2 3 4 A -0.56 -0.12 0.21 -1.32 C 0.75 0.16 0.26 0.36 G 0.00 -0.12 0.06 0.11 T -0.64 0.11 -0.74 0.31 ˔ όοΫάϥϯυ ΛԼճΔ߹ ϚΠφεʮʯ ˔ όοΫάϥϯυ Λ্ճΔ߹ ϚΠφεʮ ʯ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ ϐʔΫྖҬ
TFRVFODF ͷԘجྻʹରͯ͠ɺ֤ԘجͷείΞΛܭࢉ͢Δɻ 1 2 3 4 A -0.56 -0.12 0.21 -1.32 C 0.75 0.16 0.26 0.36 G 0.00 -0.12 0.06 0.11 T -0.64 0.11 -0.74 0.31 1PTJUJPOTQFDJGJD TDPSJOHNBUSJY 144. 4FRVFODF " $ " 5 4FRVFODFείΞ "$"5ྻʹରͯ͠ɺ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ NJONBYOPSNBMJ[BUJPOͱ͍͏ํ๏Ͱɺdͷൣғͷσʔλʹิਖ਼ɻ
ʢ͍ɺখ͘͠ॻ͍ͯ·͕͢ɺ࠷খΛʹɺ࠷େΛʹิਖ਼ͯ͠Δʹա͗·ͤΜʣ 1 2 3 4 A -0.56 -0.12 0.21 -1.32 C 0.75 0.16 0.26 0.36 G 0.00 -0.12 0.06 0.11 T -0.64 0.11 -0.74 0.31 1PTJUJPOTQFDJGJD TDPSJOHNBUSJY 144. 4FRVFODF " $ " 5 ࠷খείΞ 5"5"ྻʹରͯ͠ɺ ʔ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ NJONBYOPSNBMJ[BUJPOͱ͍͏ํ๏Ͱɺdͷൣғͷσʔλʹิਖ਼ɻ
ʢ͍ɺখ͘͠ॻ͍ͯ·͕͢ɺ࠷খΛʹɺ࠷େΛʹิਖ਼ͯ͠Δʹա͗·ͤΜʣ 1 2 3 4 A -0.56 -0.12 0.21 -1.32 C 0.75 0.16 0.26 0.36 G 0.00 -0.12 0.06 0.11 T -0.64 0.11 -0.74 0.31 1PTJUJPOTQFDJGJD TDPSJOHNBUSJY 144. 4FRVFODF " $ " 5 ࠷େείΞ $$$$ྻʹରͯ͠ɺ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ NJONBYOPSNBMJ[BUJPOͱ͍͏ํ๏Ͱɺdͷൣғͷσʔλʹิਖ਼ɻ
ʢ͍ɺখ͘͠ॻ͍ͯ·͕͢ɺ࠷খΛʹɺ࠷େΛʹิਖ਼ͯ͠Δʹա͗·ͤΜʣ ิਖ਼ͨ͠είΞ "$"5ྻʹରͯ͠ɺ ˔ ׂͱዞҙతͰ͋Δ͕ɺείΞ͕ Λ͖͍͠ʢΧοτΦϑʣͱ͢Δͱɺ ্هͷείΞͦΕΛԼճ͍ͬͯΔͨΊɺ"$"5ྻϞνʔϑྻͰͳ͍ͱ அ͞ΕΔɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ QPTJUJPOGSFRVFODZNBUSJY
1'. ΛͬͯɺϚτϦΫεͷ֤Ґஔ Ԙج ͷ ॏཁ ใྔ Λܭࢉ͢Δ͜ͱ͕Ͱ͖·͢ɻ ˔ ͜ΕɺసࣸҼࢠͷಛఆྻʹର͢Δ݁߹͢͠͞ΛఆྔԽ͢ΔͷͰ͢ɻ ˔ ͞Βʹɺ݁߹ϚτϦΫε ߦྻ ΛγʔΫΤϯεϩάͱͯ͠ࢹ֮తʹදݱ͢Δ͜ͱ Ͱ͖·͢ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ ૬ରΤϯτϩϐʔ
dͷൣғ ͱͯ͠ఆྔԽ͞Ε·͢ɻ ˔ ૬ରΤϯτϩϐʔͷಛ ˓ ֤Ԙجͷग़ݱ͕֬ۉͳ߹ ಥग़ͯ͠ग़ݱ֬ͷߴ͍Ԙج͕ଘࡏ͠ͳ͍߹ ߴ͘ͳΔ ˓ ͋Δ̍ͭͷԘجͷग़ݱ͕֬ߴ͍߹ ಥग़ͯ͠ग़ݱ֬ͷߴ͍Ԙج͕ଘࡏ͢Δ߹ ͘ͳΔ ˠಛఆͷԘجͷग़ݱස͕ߴ͍΄Ͳɺߴ͍ʹ͍ͨ͠ʂ ˔ 1J L 1'.ͷΧϥϜ ͷ Ԙج ͷग़ݱ֬ɻ
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FBLRVBMJUZDPOUSPM%/"NPUJGTPOQFBLT ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ JOGPSNBUJPODPOUFOUʢ*$ʣ
࠷େΤϯτϩϐʔ͔Β؍ଌ͞ΕͨྻͷΤϯτϩϐʔΛࠩ͠Ҿ͍ͨɻ ˔ *$ͷಛ ˓ ͋ΔԘجͷग़ݱ͕֬ߴ͍߹ߴ͘ͳΔ ˓ ͯ͢ͷԘج͕͘͠ग़ݱ͢ΔՄೳੑ͕ߴ͍߹͘ͳΔ ˠಛఆͷԘجͷग़ݱස͕ߴ͍΄Ͳɺߴ͍ʹͳͬͨʂ ˔ Τϯτϩϐʔͷ࠷େ ˔ 1J L 1'.ͷΧϥϜ ͷ Ԙج ͷग़ݱ֬
$I*1TFRσʔλ͔Βͷ QFBLDBMM 1FSDFOUBHFPGQFBLTXJUIUIFNPUJG ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻΛؚΉϐʔΫͷׂ߹ΛௐΔɻ ˔ ٯੵࢉάϥϑɻ
˔ શମͰ ఔͷϐʔΫྻͰϞνʔϑྻ͕ಉఆ͞Εͨ͜ͱ͕Θ͔Δ ߴ ͚Εߴ͍΄͏͕Α͍ ɻ ˔ ϐʔΫϥϯΫ͕ ˓ FOSJDINFOU͕࠷ߴ͍ϐʔΫɻ ˔ ϐʔΫϥϯΫ͕ ࠷ԼҐͷ ˓ FOSJDINFOU͕࠷͍ϐʔΫɻ ࠨͷਤΛಡΈղ͘ͱɺ ˔ ϐʔΫϥϯΫ dͷ͏ͪɺ ͕ϐʔΫΛؚΉɻ ˔ ϐʔΫϥϯΫ dʢશମʣͰΈΔͱɺ ͕ϐʔΫΛؚΉɻ ͱ͍͏͜ͱ͕Θ͔Δɻ ϐʔΫϥϯΫ͕͍ॱʹ Ϟνʔϑྻͷଘࡏ༗ແͷׂ߹Λੵࢉ
$I*1TFRσʔλ͔Βͷ QFBLDBMM .PUJGMPDBMJ[BUJPO ˔ ϐʔΫͷ࣭ཧʢશϐʔΫͷ͏ͪϞνʔϑྻʹΊΔׂ߹ʣ ϞνʔϑྻͷΛௐΔɻ ˔ $I*1TFRͷσʔλͷ࣭͕ྑ͚ΕɺϞνʔϑྻ֤ϐʔΫͷʹہࡏ͠
͍ͯΔͱ༧͞ΕΔɻ ఆ௨ΓɺϐʔΫྖҬͷதԝ͕ ࠷Ϟνʔϑྻͷଘࡏׂ߹͕ߴ͍͜ͱ͕Θ͔Δɻ