Upgrade to Pro
— share decks privately, control downloads, hide ads and more …
Speaker Deck
Features
Speaker Deck
PRO
Sign in
Sign up for free
Search
Search
【第9回】ゼロから始めるゲノム解析(R編)
Search
Naoto Imamachi
January 27, 2021
Science
0
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
Tweet
Share
Other Decks in Science
See All in Science
システム数理と応用分野の未来を切り拓くロードマップ・エンターテインメント(スポーツ)への応用 / Applied mathematics for sports entertainment
konakalab
1
330
Lean4による汎化誤差評価の形式化
milano0017
1
240
02_西村訓弘_プログラムディレクター_人口減少を機にひらく未来社会.pdf
sip3ristex
0
490
データベース05: SQL(2/3) 結合質問
trycycle
PRO
0
710
深層学習を用いた根菜類の個数カウントによる収量推定法の開発
kentaitakura
0
160
高校生就活へのDA導入の提案
shunyanoda
0
370
マウス肝炎ウイルス感染の遺伝子発現へのテンソル分解の適用によるSARS-CoV-2感染関連重要ヒト遺伝子と有効な薬剤の同定
tagtag
0
120
A Guide to Academic Writing Using Generative AI - A Workshop
ks91
PRO
0
120
Cross-Media Information Spaces and Architectures (CISA)
signer
PRO
3
31k
データベース09: 実体関連モデル上の一貫性制約
trycycle
PRO
0
700
モンテカルロDCF法による事業価値の算出(モンテカルロ法とベイズモデリング) / Business Valuation Using Monte Carlo DCF Method (Monte Carlo Simulation and Bayesian Modeling)
ikuma_w
0
180
機械学習 - K近傍法 & 機械学習のお作法
trycycle
PRO
0
1.1k
Featured
See All Featured
Building Applications with DynamoDB
mza
95
6.5k
Refactoring Trust on Your Teams (GOTO; Chicago 2020)
rmw
34
3.1k
Dealing with People You Can't Stand - Big Design 2015
cassininazir
367
26k
Building Adaptive Systems
keathley
43
2.6k
How to Ace a Technical Interview
jacobian
277
23k
Building a Modern Day E-commerce SEO Strategy
aleyda
42
7.4k
YesSQL, Process and Tooling at Scale
rocio
173
14k
Side Projects
sachag
455
42k
JavaScript: Past, Present, and Future - NDC Porto 2020
reverentgeek
48
5.4k
The Language of Interfaces
destraynor
158
25k
Optimising Largest Contentful Paint
csswizardry
37
3.3k
XXLCSS - How to scale CSS and keep your sanity
sugarenia
248
1.3M
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
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ #JPMPHJDBMSFQMJDBUFT ˔ ͜ΕݴΘ͕ͣͳɻ ˔ ࣮ݧޡࠩΛߟྀ͢Δʹɺ#JPMPHJDBMSFQMJDBUFTΛऔΔʹӽͨ͜͠ͱͳ͍ɻ ˔ ʮαϯϓϧ͕૿͑Δ
͓͕͔͔ۚΔʯͳͷͰɺ༧ࢉͱ૬ஊʹͳΔɻ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ $POUSPM࣮ݧͷσβΠϯ ˔ $POUSPM࣮ݧͷछྨɻ ˓ *OQVUDPOUSPM*1લͷήϊϜ%/"Λγʔέϯεɻ ˙ $I*1ͷαϯϓϧΑΓ
4FRVFODFEFQUIΛਂ͘ಡΉඞཁ͕͋Δɻ ʢ$I*1αϯϓϧͷ߹ɺೱॖͨ͠ήϊϜͷαϒηοτ͕γʔέϯε ͞ΕΔͷʹର͠ɺ*OQVUήϊϜશମΛγʔέϯε͢Δඞཁ͕͋ΔͨΊʣ ˓ *H(DPOUSPMඇಛҟతͳ *H(߅ମͰ *1ͨ͠αϯϓϧΛγʔέϯεɻ ˙ ेͳ%/"Λ֬อ͢Δ͜ͱ͕͘͠ɺαϯϓϧௐ͕ࠔɻ ˓ ,OPDLPVUDPOUSPM*1͢ΔλϯύΫ࣭ΛϊοΫΞτͨ͠ࡉ๔Λ༻ҙɻ ˙ &TTFOUJBMHFOFʹదԠͰ͖ͳ͍ɻ ˙ ϊοΫΞτͷӨڹͰ $I*1ͷϓϩϑΝΠϧࣗମ͕ݩͷͷ͔Βେ͖͘ มΘͬͯ͠·͏ڪΕ͕͋Δɻ ˒ *OQVUDPOUSPMΛ༻ҙ͓͚ͯ͠ɺͱΓ͋͑ͣ0,ɻ
$I*1TFRͷσʔλ࣭ʹؔΘΔҼࢠ 'BDUPSTUIBUBGGFDU$I*1TFRFYQFSJNFOUBOEBOBMZTJTRVBMJUZ $POUSPM࣮ݧͷσβΠϯ ˔ *OQVUͱ *H(*1DPOUSPMͷ̎छྨΛ༻͍ͨ΄͏͕ਫ਼্͕Δͣɻ 9V +JOSVJ FUBM5PNPDLPSOPUBDPNQSFIFOTJWFDPNQBSJTPOPGNPDL*1BOE%/"JOQVUGPS$I*1TFR
/VDMFJD"DJET3FTFBSDI HLBB *H(*1Ͱݕग़͞ΕΔ ϐʔΫΛআ֎͢Δ
$I*1TFRσʔλͷήϊϜͷϚοϐϯά લॲཧ 1SFQSPDFTTJOH$I*1EBUB ˔ Ϛοϐϯάπʔϧ ˓ #PXUJF ˓ #8"ʢ&/$0%&ϓϩδΣΫτͰ࠾༻͞Ε͍ͯΔʣ
˔ .VMUJNBQQJOHΛڐ༰͢Δ͔Ͳ͏͔ ˓ %/"ͷෳࡶͷ͍ϦϐʔτྻʢϨτϩτϥϯεϙκϯɺQTFVEPHFOFͳͲʣΛ ղੳରʹ͍ͨ͠߹ڐ༰͢Δɻ ˔ %VQMJDBUFESFBETͷѻ͍ ˓ ಉ͡ήϊϜྖҬʹෳͷϦʔυ͕Ϛοϐϯά͞ΕΔ߹ɺ ˙ ϥΠϒϥϦதʹಉ͡%/"ϑϥάϝϯτ͕ෳଘࡏͨ͠Մೳੑ ˙ 1$3ʹΑΔෳͷՄೳੑ ͕ߟ͑ΒΕΔɻ ˓ సࣸҼࢠͰɺڱ͍%/"ྖҬʹ݁߹͠͏Δ߹ɺ%/"αϯϓϧ͕ೱॖ͞ΕΔͨΊɺ %VQMJDBUFESFBET͕ग़ݱ͍͢͠ɻ ͦ͜Ͱɺ%VQMJDBUFESFBETΛ /·Ͱڐ༰͢Δ͜ͱͰײΛ্͛Δख͋Δɻ
$I*1TFRσʔλͷήϊϜͷϚοϐϯά લॲཧ 1SFQSPDFTTJOH$I*1EBUB ˔ ϒϥοΫϦετͷ%/"ྖҬ ˓ DFMMMJOFɺ؞ࡉ๔ͳͲͰɺϦϑΝϨϯεήϊϜʹଘࡏ͠ͳ͍ॏෳɾૠೖͳͲͷ ήϊϜߏͷҧ͍ΛؚΜͰ͍Δέʔε͕͋Δɻ ˓
͜ͷΑ͏ͳྖҬ͕ϨϑΝϨϯεήϊϜ্ʹҰՕॴ͔͠ଘࡏ͠ͳ͍߹ɺϚοϐϯά ͨ͠ࡍʹೱॖ͞ΕɺBSUJGJDBMͳϐʔΫͱͯ͠ݕग़͞ΕΔةݥੑ͕͋Δɻ ˓ ্هͷྖҬΛϒϥοΫϦετʹ·ͱΊͨσʔλ͕ެ։͞Ε͍ͯΔɻ ˙ &/$0%&#MBDLMJTU ˔ IUUQTXXXFODPEFQSPKFDUPSHBOOPUBUJPOT&/$43)'' "NFNJZB )BMFZ. "OTIVM,VOEBKF BOE"MBO1#PZMF5IF&/$0%&CMBDLMJTUJEFOUJGJDBUJPOPGQSPCMFNBUJD SFHJPOTPGUIFHFOPNF4DJFOUJGJDSFQPSUT ϒϥοΫϦετʹڍ͕ͬͯ ͍ΔྖҬʹϚοϐϯά͞Εͨ ϦʔυΛআ֎͢Δɻ
$I*1TFRσʔλͷήϊϜͷϚοϐϯά લॲཧ 1SFQSPDFTTJOH$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
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ 4BNQMFDMVTUFSJOH αϯϓϧؒͷ૬ؔΛͬͨΫϥελϦϯά લఏࣝ ˔ 4.$ίώʔγϯͷαϒϢχοτɻ ˔ $5$'ίώʔγϯͷෳ߹ମͱ݁߹͢ΔసࣸҼࢠɻ
˔ ͭ·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
$I*1TFRσʔλͷ࣭νΣοΫʢ2$ʣ ($CJBTRVBOUJGJDBUJPO ($όΠΞεͷఆྔ ˔ 1$3ʹΑΔ%/"ෳͷաఔͰ ($DPOUFOUͷόΠΞε͕ੜ͡Δ͜ͱ͕͋Δɻ ˔ ͜͜ͰɺαϯϓϧؒͰ
($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