{"id":6,"date":"2024-04-03T23:15:08","date_gmt":"2024-04-03T20:15:08","guid":{"rendered":"https:\/\/sisu.ut.ee\/geneetika2\/mittekodeerivad-jarjestused\/"},"modified":"2024-04-10T11:13:18","modified_gmt":"2024-04-10T08:13:18","slug":"mittekodeerivad-jarjestused","status":"publish","type":"page","link":"https:\/\/sisu.ut.ee\/geneetika2\/mittekodeerivad-jarjestused\/","title":{"rendered":"4. Mittekodeerivad j\u00e4rjestused inimese tuumagenoomis"},"content":{"rendered":"<h3>DNA kordusj\u00e4rjestused<\/h3>\n<ol>\n<li><strong style=\"line-height: 1.6em;\">Satelliit DNA <\/strong>koosneb v\u00e4ga suurtest (100\u00a0000 bp \u2013 m\u00f5ned Mb) tandeemselt korduva mittekodeeriva DNA blokkidest.<\/li>\n<li><strong style=\"line-height: 1.6em;\">Minisatelliit DNA<\/strong><span style=\"line-height: 1.6em;\">\u00a0k<\/span>oosneb keskmiselt suurtest (100 bp \u2013 20\u00a0000 bp) tandeemselt korduva mittekodeeriva DNA blokkidest.<\/li>\n<li><strong style=\"line-height: 1.6em;\">Mikrosatelliit DNA<\/strong><span style=\"line-height: 1.6em;\">\u00a0k<\/span>oosneb v\u00e4ikese suurusega (&lt;100 bp) blokkidest tandeemselt korduvast mittekodeerivast DNA-st. Bloki moodustavad &lt;10 bp korduvad \u00fchikud, mida leidub hajutatult k\u00f5igis kromosoomides.<\/li>\n<\/ol>\n<h3>Mobiilsed geneetilised elemendid<\/h3>\n<p>Mobiilsed geneetilised elemendid ehk <strong>transposoonid<\/strong>, mis \u201eh\u00fcppavad\u201d iseseisvalt genoomi \u00fchest kohast teise (protsess, mida kutsutakse <strong>transpositsiooniks<\/strong>), koosnevad mittekodeeriva DNA kordusj\u00e4rjestustest, mis moodustab inimese tuumagenoomist umbes 45%.<\/p>\n<p>Transposoonide t\u00fc\u00fcbid:<\/p>\n<ul>\n<li><strong>L\u00fchikesed vahelel\u00fckitud tuuma elemendid (SINE)<\/strong><\/li>\n<\/ul>\n<p>SINE klassifitseeritakse kolme perekonda:<\/p>\n<ol>\n<li style=\"list-style-type: none;\">\n<ol>\n<li><span style=\"line-height: 1.6em;\">Alu<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">MIR<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">MIR3<\/span><\/li>\n<\/ol>\n<\/li>\n<\/ol>\n<p>Alu kordus on 280 bp pikk ja inimese genoomis on see k\u00f5ige enam esinev j\u00e4rjestus. Alu-elemendid paiknevad eelistatult <strong>intronites, geenidevahelises alas ja geenide 3\u2019 UTR <\/strong>regioonides \u2013 s.o. mittekodeerivates alades geenitihedates piirkondades. Nime on saanud sellest, et neid l\u00f5ikab ens\u00fc\u00fcm AluI.\u00a0Olemuselt retrotransposoonid\u00a0\u2013 DNA segmendid, mis amplifitseeruvad ens\u00fc\u00fcm p\u00f6\u00f6rdtranskriptaasi vahendusel ja liiguvad iseseisvalt genoomi \u00fchest piirkonnast teise.<\/p>\n<p>Skeem Alu elemendi retrotranspositsioonist:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"695\" class=\"alignnone wp-image-30 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"4-1.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-1.png\" alt=\"4-1.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-1.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-1-259x300.png 259w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/p>\n<p style=\"text-align: center;\"><a href=\"http:\/\/www.nature.com\/nrg\/journal\/v3\/n5\/box\/nrg798_BX1.html\" target=\"_blank\" rel=\"noopener\">http:\/\/www.nature.com\/nrg\/journal\/v3\/n5\/box\/nrg798_BX1.html<\/a><\/p>\n<p>Iga Alu j\u00e4rjestuse 5\u00b4l\u00f5pp sisaldab RNA pol\u00fcmeraas III promootorit (joonisel kastid A ja B). Elementide 3\u00b4l\u00f5pud sisaldavad alati poyA \u2013 j\u00e4rjestust.<\/p>\n<div id=\"accordion\" class=\"accordion\">\n<p class=\"p1\"><\/p><div class=\"accordion mb-3\">\n        <div class=\"accordion-item accordion-item--white\">\n        <h2 class=\"accordion-header\" id=\"accordion-69e51136810b4-heading\">\n            <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#accordion-69e51136810b4-collapse\" aria-expanded=\"true\" aria-controls=\"accordion-69e51136810b4-collapse\">Milliste inimese haiguste korral on etioloogiline p\u00f5hjus Alu elementide insertsioonis genoomi teatud kindlatesse piirkondadesse? <\/button>\n        <\/h2>\n        <div id=\"accordion-69e51136810b4-collapse\" class=\"accordion-collapse collapse\" aria-labelledby=\"accordion-69e51136810b4-heading\">\n            <div class=\"accordion-body\">Neurofibromatoos, rinnav\u00e4hk, hemofiilia, Apert\u00b4i s\u00fcndroom jt.<\/div>\n        <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n<ul>\n<li><strong>Pikad vahelel\u00fckitud tuuma elemendid (LINE)<\/strong><\/li>\n<\/ul>\n<p>LINE klassifitseeritakse kolme perekonda:<\/p>\n<ol>\n<li style=\"list-style-type: none;\">\n<ol>\n<li><span style=\"line-height: 1.6em;\">LINE 1<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">LINE 2<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">LINE 3<\/span><\/li>\n<\/ol>\n<\/li>\n<\/ol>\n<p>K\u00f5ige olulisem inimese transposoon on LINE 1, mille pikkuseks on ~6,1 kb, mis transponeerub v\u00e4ga aktiivselt ja v\u00f5ib h\u00e4irida olulisi funktsionaalseid geene. Esinevad ligi 900 000 inimgenoomi saidis; (j\u00e4rjestused h\u00f5lmavad ~ 21% genoomist). \u00a0Ekspresseerivad m\u00f5ningaid valke (ORF1 ja ORF2). Nii LINE kui SINE liikumine genoomis toimub t\u00e4ispika LINE kodeeritud ORF1 ja ORF2 valgu vahendusel.<\/p>\n<p><span style=\"line-height: 1.6em;\">Skeem kahest transposoon LINE 1 elemendist liigil <\/span><em style=\"line-height: 1.6em;\">Beta vulgaris<\/em><span style=\"line-height: 1.6em;\">:<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"136\" class=\"alignnone wp-image-31 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"4-2.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-2.png\" alt=\"4-2.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-2.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-2-300x68.png 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/p>\n<p>Joonisel rohelised kastid t\u00e4histavad transleeritavaid regioone, punased kastid sekundaarseid struktuure. S\u00fcmbolid joonisel: RRM \u2013 RNA \u00e4ratundmismotiiv, CCHC \u2013 zinc-finger dom\u00e4\u00e4n, ORF \u2013 avatud lugemisraam, TSD \u2013 sihtm\u00e4rk saidi duplikatsioon peremehe genoomis, gag \u2013 gag-sarnane valk, EN \u2013 endonukleaas, RT \u2013 p\u00f6\u00f6rdtranskriptaas, RN seH \u2013 ribonukleaas H.\u00a0<a href=\"http:\/\/tu-dresden.de\/die_tu_dresden\/fakultaeten\/fakultaet_mathematik_und_naturwissenschaften\/fachrichtung_biologie\/botanik\/zellmolbiopflanzen\/forschung\/LINEs\" target=\"_blank\" rel=\"noopener\">http:\/\/tu-dresden.de\/die_tu_dresden\/fakultaeten\/ fakultaet_mathematik_und_naturwissenschaften\/ fachrichtung_biologie\/ botanik\/ zellmolbiopflanzen\/ forschung\/LINEs<\/a><\/p>\n<ul>\n<li><strong>LTR transposoonid \u2013 pikkade terminaalsete kordusj\u00e4rjestustega transposoonid<\/strong><\/li>\n<\/ul>\n<p><strong>Sisaldavad LTR<\/strong> ehk viiruslikud transposoonid (inimese genoomist ~8% ). Ei kodeeri viiruste pinnavalke ega ole v\u00f5imelised nakatama teisi rakke. Sisaldavad p\u00f6\u00f6rdtranskriptaasi ja integraasi, liiguvad raku DNA piires.<\/p>\n<p>LTR retrotransposoonid klassifitseeritakse kahte perekonda:<\/p>\n<ol>\n<li style=\"list-style-type: none;\">\n<ol>\n<li><span style=\"line-height: 1.6em;\">ERV<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">MaLR<\/span><\/li>\n<\/ol>\n<\/li>\n<\/ol>\n<p><span style=\"line-height: 1.6em;\">Skeem LTR transposoonist:<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"450\" height=\"469\" class=\"alignnone wp-image-32 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"4-3.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-3.png\" alt=\"4-3.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-3.png 450w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-3-288x300.png 288w\" sizes=\"auto, (max-width: 450px) 100vw, 450px\"><\/p>\n<p style=\"text-align: center;\"><a href=\"http:\/\/www.bio.miami.edu\/dana\/250\/250S12_17print.html\" target=\"_blank\" rel=\"noopener\">http:\/\/www.bio.miami.edu\/dana\/250\/250S12_17print.html<\/a><\/p>\n<ul>\n<li><strong>DNA transposoonid:<\/strong><\/li>\n<\/ul>\n<p>DNA transposoonid transponeeruvad uude kohta kohe DNA j\u00e4rjestustena. Enamasti <strong>prokar\u00fcootidel<\/strong>. Inimese DNAst ~3%.<\/p>\n<p>DNA transposoonid klassifitseeritakse kahte perekonda:<\/p>\n<ol>\n<li style=\"list-style-type: none;\">\n<ol>\n<li><span style=\"line-height: 1.6em;\">MER-1 (Charlie)<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">MER-2 (Tigger)<\/span><\/li>\n<\/ol>\n<\/li>\n<\/ol>\n<p>Enamus DNA transposoone ei ole aktiivsed ja ei \u201eh\u00fcppa\u201d genoomis, seet\u00f5ttu peetakse neid transposooni fossiilideks.<\/p>\n<p><strong>Mobiilsed elemendid kasutavad genoomis liikumiseks peamiselt kahte mehhanismi:<\/strong><\/p>\n<ul>\n<li><strong>Konservatiivne transpositsioon<\/strong> \u2013 liikudes kaheahelalise DNA-na \u201e<em>cut \u2013 and \u2013 paste<\/em>\u201d meetodil.<\/li>\n<li><strong>Retrotranspositsioon <\/strong>\u2013 transposoonid \u201eh\u00fcppavad\u201d l\u00e4bi RNA vaheetapi. Transposoon allub transkriptsioonile, kus tekib ens\u00fc\u00fcm RNA p\u00f6\u00f6rdtranskriptaasi kodeeriv RNA koopia. P\u00f6\u00f6rdtranskriptaas s\u00fcnteesib RNA koopialt transposooni kaheahelalise DNA koopia. Transposooni sisestamine uude kohta toimub ens\u00fc\u00fcm integraasi abiga. See mehhanism on sarnane mehhanismiga, mida kasutab oma eluts\u00fcklis retroviirus integreerumiseks peremehe genoomi.<\/li>\n<\/ul>\n<div id=\"accordion\" class=\"accordion\">\n<p class=\"p1\"><\/p><div class=\"accordion mb-3\">\n        <div class=\"accordion-item accordion-item--white\">\n        <h2 class=\"accordion-header\" id=\"accordion-69e51136810ca-heading\">\n            <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#accordion-69e51136810ca-collapse\" aria-expanded=\"true\" aria-controls=\"accordion-69e51136810ca-collapse\">Kuidas nimetatakse peremehe genoomi integreerunud retroviiruse koopiat, mis esineb seal latentses olekus? <\/button>\n        <\/h2>\n        <div id=\"accordion-69e51136810ca-collapse\" class=\"accordion-collapse collapse\" aria-labelledby=\"accordion-69e51136810ca-heading\">\n            <div class=\"accordion-body\">Proviirus.<\/div>\n        <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n<p><span style=\"line-height: 1.6em;\">Skeem DNA transposooni liikumise kohta genoomis \u201e<\/span><em style=\"line-height: 1.6em;\">cut \u2013 and \u2013 paste<\/em><span style=\"line-height: 1.6em;\">\u201d meetodil:<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"418\" class=\"alignnone wp-image-33 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"4-4.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-4.png\" alt=\"4-4.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-4.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-4-300x209.png 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/p>\n<p style=\"text-align: center;\"><a href=\"http:\/\/classconnection.s3.amazonaws.com\/785\/flashcards\/576785\/jpg\/dna_only_transposable_element1310260207964.jpg\" target=\"_blank\" rel=\"noopener\">http:\/\/classconnection.s3.amazonaws.com\/785\/flashcards\/576785\/jpg\/dna_only_transposable_element1310260207964.jpg<\/a><\/p>\n<p><strong style=\"line-height: 1.6em;\">Transposoonide t\u00e4htsus<\/strong><\/p>\n<p>Peamine on organismi geneetilise muutlikkuse m\u00f5jutamine l\u00e4bi:<\/p>\n<ul>\n<li><span style=\"line-height: 1.6em;\">Mutatsioonid transposooni saidis<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Geeniekspressiooni tase<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Geeni inaktivatsioon<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Geeni \u00fclekanne (mehhanism on oluline bakterite antibiootikumiresistentsuse tekkel)<\/span><\/li>\n<\/ul>\n<div id=\"accordion\" class=\"accordion\">\n<p class=\"p1\"><\/p><div class=\"accordion mb-3\">\n        <div class=\"accordion-item accordion-item--white\">\n        <h2 class=\"accordion-header\" id=\"accordion-69e51136810ce-heading\">\n            <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#accordion-69e51136810ce-collapse\" aria-expanded=\"true\" aria-controls=\"accordion-69e51136810ce-collapse\">Kuidas m\u00f5jutab mobiilsete geneetiliste elementide liikumine bakterite omadusi? <\/button>\n        <\/h2>\n        <div id=\"accordion-69e51136810ce-collapse\" class=\"accordion-collapse collapse\" aria-labelledby=\"accordion-69e51136810ce-heading\">\n            <div class=\"accordion-body\">Mobiilsete geneetiliste elementide liikumisel bakterite hulgas on kriitiline roll virulentsusfaktorite (eksotoksiinid ja eksoens\u00fc\u00fcmid) levitamisel.<\/div>\n        <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n<h3>Veel mittekodeeriva DNA elemente inimese genoomis:<\/h3>\n<ul>\n<li><span style=\"line-height: 1.6em;\">Intronid (26% genoomist) \u2013 geeni regulatoorsed j\u00e4rjestused, mis transkriptsioonij\u00e4rgse protsessingu k\u00e4igus RNA j\u00e4rjestusest v\u00e4lja l\u00f5igatakse.<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Konstitutsiooniline heterokromatiin (8% genoomist), mis asub kromosoomide tsentromeeride ja telomeeride piirkonnas.<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Geeniv\u00e4line DNA.<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">5\u00b4-UTR geeni j\u00e4rjestus transleeritava regiooni ees.<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">3\u00b4- UTR geeni j\u00e4rjestus peale transleeritavat piirkonda.<\/span><\/li>\n<\/ul>\n<p>Skeem k\u00fcpse eukar\u00fcootse mRNA struktuurist:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"199\" class=\"alignnone wp-image-34 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"4-5.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-5.png\" alt=\"4-5.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-5.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/56\/4-5-300x100.png 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/p>\n<p style=\"text-align: center;\"><a href=\"http:\/\/en.wikipedia.org\/wiki\/File:Mature_mRNA.png\" target=\"_blank\" rel=\"noopener\">http:\/\/en.wikipedia.org\/wiki\/File:Mature_mRNA.png<\/a><\/p>\n<p>T\u00e4ielikult protsessitud mRNA sisaldab\u00a0 5\u2032 cap struktuuri, 5\u2032 UTR, kodeerivat regiooni, 3\u2032 UTR ja poly(A) saba.<\/p>\n<p>Kasutatud kirjandus:<\/p>\n<ul>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/users.rcn.com\/jkimball.ma.ultranet\/BiologyPages\/T\/Transposons.html\" target=\"_blank\" rel=\"noopener\">http:\/\/users.rcn.com\/jkimball.ma.ultranet\/BiologyPages\/T\/Transposons.html<\/a><\/li>\n<li><span style=\"line-height: 1.6em;\">\u00a0<\/span><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.nature.com\/nrg\/journal\/v3\/n5\/box\/nrg798_BX1.html\" target=\"_blank\" rel=\"noopener\">http:\/\/www.nature.com\/nrg\/journal\/v3\/n5\/box\/nrg798_BX1.html<\/a><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.studyblue.com\/\" target=\"_blank\" rel=\"noopener\">www.studyblue.com<\/a><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.lookfordiagnosis.com\/mesh_info.php?term=Dna+Transposable+Elements&amp;lang=1\" target=\"_blank\" rel=\"noopener\">http:\/\/www.lookfordiagnosis.com\/mesh_info.php?term=Dna+Transposable+Elements&amp;lang=1<\/a><\/li>\n<li><span style=\"line-height: 1.6em;\">Dudek, R.W., Wiley,J.E. High-Yield Genetics (2009), Lippincott Williams&amp;Wilkins\u00a0<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Lynch M. The origins of genome architecture (2007), Sinauer Associates, Inc<\/span><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>DNA kordusj\u00e4rjestused Satelliit DNA koosneb v\u00e4ga suurtest (100\u00a0000 bp \u2013 m\u00f5ned Mb) tandeemselt korduva mittekodeeriva DNA blokkidest. Minisatelliit DNA\u00a0koosneb keskmiselt suurtest (100 bp \u2013 20\u00a0000 bp) tandeemselt korduva mittekodeeriva DNA blokkidest. Mikrosatelliit DNA\u00a0koosneb v\u00e4ikese suurusega (&lt;100 bp) blokkidest tandeemselt korduvast &#8230;<\/p>\n","protected":false},"author":280,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-6","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/pages\/6","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/users\/280"}],"replies":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/comments?post=6"}],"version-history":[{"count":2,"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/pages\/6\/revisions"}],"predecessor-version":[{"id":89,"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/pages\/6\/revisions\/89"}],"wp:attachment":[{"href":"https:\/\/sisu.ut.ee\/geneetika2\/wp-json\/wp\/v2\/media?parent=6"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}