Biologia Molecolare

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[88 ] Capitolo 4 GENI E GENOMI: ORGANIZZAZIONE E FUNZIONE
†‡‹ ’”‘–‘ ‘ŽŽ‹ •’‡”‹‡–ƒŽ‹ ‡ ƒƒŽ‹–‹ ‹ ‡ †‹ ‘†ƒŽ‹– ‘‘‰‡‡‡ †‹ ‰‡•–‹‘‡ ‡ ‘”‰ƒ‹œœƒœ‹‘‡ †‡ŽŽ‡
„ƒ Š‡ †ƒ–‹ †‡†‹ ƒ–‡Ǥ ƒ ‹ “—‡•–ƒ †‹”‡œ‹‘‡ ‹Ž Genomes Online Database-GOLD ȋŠ––’•ǣȀȀ
‰‘Ž†ǤŒ‰‹Ǧ’•ˆǤ‘”‰Ȍ Š‡ ° —ƒ ”‹•‘”•ƒ ’—„„Ž‹ ƒ ’‡” Žǯƒ ‡••‘ ‘’Ž‡–‘ ‡ ‹–‡‰”ƒ–‘ ƒŽŽ‡ ‹ˆ‘”ƒœ‹‘‹
‰‡‘‹ Š‡ǡ ’‘•–Ǧ‰‡‘‹ Š‡ ‡ ‡–ƒ‰‡‘‹ Š‡ †‡‰Ž‹ •–—†‹ ‘†‘––‹ ‹ –—––‘ ‹Ž ‘†‘Ǥ  “—‡•–‘
†ƒ–ƒ„ƒ•‡ •‘‘ ‘•‡”˜ƒ–‡ ‡ ”‡•‡ †‹•’‘‹„‹Ž‹ ‹ˆ‘”ƒœ‹‘‹ ‰‡‘‹ Š‡ Š‡ ”‹‰—ƒ”†ƒ‘ “—ƒ•‹
͹ͲǤͲͲͲ •’‡ ‹‡ ‘ ƒ’‹‘‹ „‹‘Ž‘‰‹ ‹Ǥ‡ŽŽǯ‡”ƒ ’‘•–Ǧ‰‡‘‹ ƒǡ Ž‡ ‹†ƒ‰‹‹ • ‹‡–‹ˆ‹ Š‡ ‡ –‡ ‘Ž‘‰‹ Š‡ •‘‘ ”‹˜‘Ž–‡ ’”‹ ‹’ƒŽ‡–‡
ƒŽŽƒ ‘’”‡•‹‘‡ †‡ŽŽ‡ ˆ—œ‹‘‹ †‡Ž ‰‡‘ƒǤ ƒ genomica ° †—“—‡ — —‘˜‘ ƒ’‘ †‹ ‹†ƒǦ
‰‹‹ • ‹‡–‹ˆ‹ Š‡ ‡ –‡ ‘Ž‘‰‹ Š‡ Š‡ •‹ †‡†‹ ƒ ƒŽŽ‘ •–—†‹‘ †‡ŽŽƒ •–”—––—”ƒ ‡ ˆ—œ‹‘‹ †‡‹ ‰‡‘‹ ‡
†‡‰Ž‹ ƒ ‹†‹ — Ž‡‹ ‹ǡ ƒ Ž‹˜‡ŽŽ‘ ‡ŽŽ—Žƒ”‡ ȋ— •‹–‘ ‰‡‡”ƒŽ‡ †‹ ”‹ˆ‡”‹‡–‘ ° Ȁ
‰‡‘‡ †‡ŽŽǯƒ‡”‹ ƒ‘ NCBI – National Center for Biotechnology Information ‘ ‰‡‘‡Ǥ
ucsc.edu UCSC Genome Browser †‡ŽŽǯ ‹˜‡”•‹– †‡ŽŽƒ ƒŽ‹ˆ‘”‹ƒ ƒ ƒ–ƒ ”—œ ȋ•‹ ˜‡†ƒ Žƒ Figura
4.5 ’‡” — ‡•‡’‹‘ †‹ — „”‘™•‡” ‰‡‘‹ ‘ȌǤ ‘‡ •‘––‘Ž‹‡ƒ–‘ ‡‹ ’ƒ”ƒ‰”ƒˆ‹ ’”‡ ‡†‡–‹ǡ ‹
’”‘‰”‡••‹ ‹ “—‡•–‘ —‘˜‘ ƒ’‘ †‹’‡†‘‘ •‘•–ƒœ‹ƒŽ‡–‡ †ƒ‰Ž‹ ƒ˜ƒœƒ‡–‹ –‡ ‘Ž‘‰‹ ‹ †‹
•‡“—‡œ‹ƒ‡–‘ ȋhigh-throughput sequencingȌ “—ƒŽ‹ ‡ †‹ ‡–‘†‘Ž‘‰‹‡ „‹‘‹ˆ‘”ƒ–‹ Š‡ †‹
ƒƒŽ‹•‹ ‡ †‹ ‘”‰ƒ‹œœƒœ‹‘‡ ‹ „ƒ Š‡ †ƒ–‹ †‡‹ ”‹•—Ž–ƒ–‹ ‘––‡—–‹Ǥ ‘ •˜‹Ž—’’‘ †‹ „ƒ Š‡ †ƒ–‹ †‡†‹Ǧ
ƒ–‡ ° ”‡• ‡–‡ ‹ –‡”‹‹ —‡”‹ ‹ ‡ †‹ ‘†ƒŽ‹– ‘”‰ƒ‹œœƒ–‹˜‡ •‡’”‡ ‹‰Ž‹‘”‹ ‡ ‹–‡‰”ƒ–‡Ǥˆƒ––‹ǡ —ƒ •‡“—‡œƒ †‹ ‰‡‘ƒ ° •‡’Ž‹ ‡‡–‡ —ƒ •–”‹‰ƒ †‹ Ͷ ƒ”ƒ––‡”‹ǡ ǡ ǡ ‡ ǡ ƒ ‹Ž •—‘
˜ƒŽ‘”‡ ‡ •‹‰‹ˆ‹ ƒ–‘ „‹‘Ž‘‰‹ ‘ †‹’‡†‘‘ “—ƒ•‹ ‡• Ž—•‹˜ƒ‡–‡ †ƒŽŽ‡ ‘†ƒŽ‹– ‘”‰ƒ‹œœƒ–‹˜‡ ƒ–Ǧ
–”ƒ˜‡”•‘ Ž‡ “—ƒŽ‹ Žƒ •‡“—‡œƒ ° †‡’‘•‹–ƒ–ƒǤ —‡•–‡ ‘†ƒŽ‹– †‡˜‘‘ ’‡”–ƒ–‘ ’”‡˜‡†‡”‡ –—––‡ Ž‡
‹ˆ‘”ƒœ‹‘‹ †‹•’‘‹„‹Ž‹ †‹ ‹ƒ• —ƒ •‡“—‡œƒ ‘ ”‡‰‹‘‡ ‰‡‘‹ ƒ ”‡Žƒ–‹˜ƒ‡–‡ ƒŽŽ‡ ˆ—œ‹‘‹ ‡
ƒŽŽ‡ •–”—––—”‡Ǥ ǯƒ‰‰‹—–ƒ †‹ —Ž–‡”‹‘”‹ ‹ˆ‘”ƒœ‹‘‹ ˆ—œ‹‘ƒŽ‹ ƒŽŽ‡ •‡“—‡œ‡ ‰‡‘‹ Š‡ ° †—“—‡
— ’”‘ ‡••‘ ‘Ž–‘ ‹’‘”–ƒ–‡ ƒ‹ ˆ‹‹ †‡ŽŽƒ ’‘••‹„‹Ž‹– †‹ •–—†‹ƒ”‡ ‡ ‘‘• ‡”‡ ‹Ž ‰‡‘ƒǡ ‡† °
‰‡‡”ƒŽ‡–‡ ‹†‹ ƒ–‘ ‘‡ annotazione genomica. ǯƒ‘–ƒœ‹‘‡ ‰‡‘‹ ƒ ‰‡‡”ƒŽ‡–‡ ’ƒ”–‡ ‘ Žǯ‹†‡–‹ˆ‹ ƒœ‹‘‡ †‹ –—––‹ ‹ ‰‡‹ ’”‡•‡–‹ ‡Ž
‰‡‘ƒǤ ‡” ‰‡‡ǡ “—‹ ‹–‡†‹ƒ‘ —ƒ ”‡‰‹‘‡ †‡Ž Š‡ ‘†‹ˆ‹ ƒ ’‡” —ƒ ’”‘–‡‹ƒ ‘ ’‡” —
‘ ‘†‹ˆ‹ ƒ–‡ ȋnon-coding RNA Ȍ ‘‡ – ‘ ” Ǥ ‡” †‡ˆ‹‹”‡ Žƒ ’‘•‹œ‹‘‡ †‡‹ ‰‡‹ ‹
— ‰‡‘ƒ ˜‡‰‘‘ ‡” ƒ–‡ •‡“—‡œ‡ ‘ ’ƒ”–‹ ‘Žƒ”‹ ƒ”ƒ––‡”‹•–‹ Š‡Ǥ  ’”‹‘ǡ Žƒ••‹ ‘ ‡–‘Ǧ
†‘ ° Žƒ ”‹ ‡” ƒ †‹ •‡“—‡œ‡ ORF ȋOpen Reading FrameȌ Š‡ ‹†‹˜‹†—ƒ — ’‘–‡œ‹ƒŽ‡ ‰‡‡ ‘†‹Ǧ
ˆ‹ ƒ–‡ ’‡” —ƒ ’”‘–‡‹ƒǤ ‘ ‹Ž ’”‘‰”‡••‹˜‘ ƒ’Ž‹ƒ”•‹ †‡ŽŽ‡ ‘‘• ‡œ‡ †‹ ‰‡‹ †‹ ‘Ž–‹ ‘”‰ƒ‹Ǧ
•‹ †‹˜‡”•‹ǡ — ƒŽ–”‘ ‡–‘†‘ ° Žƒ ”‹ ‡” ƒ †‹ •‡“—‡œ‡ •‹‹Ž‹ ƒ ‰‡‹ ‘–‹ †‹ ƒŽ–”‹ ‘”‰ƒ‹•‹ ‘
‡–‘†‘Ž‘‰‹‡ „‹‘‹ˆ‘”ƒ–‹ Š‡ ȋ•‹ ˜‡†ƒ‘ ƒ Š‡ ‹ ’ƒ”ƒ‰”ƒˆ‹ •— ‡••‹˜‹ȌǤ ƒ ‘‘• ‡œƒ †‡Ž ‰‡‡
‡ †‡ŽŽ‡ •—‡ ˆ—œ‹‘‹ ‹ — ‘”‰ƒ‹•‘ ’‡”‡––‡ ‹ˆƒ––‹ Žǯ‹†‹˜‹†—ƒœ‹‘‡ †‹ —‘˜‹ ‰‡‹ ‹ ƒŽ–”‹ ‰‡Ǧ
‘‹ ‡ ƒ”ƒ––‡”‹œœƒ”Ž‹ †ƒŽ ’—–‘ †‹ ˜‹•–ƒ ˆ—œ‹‘ƒŽ‡Ǥ †‡–‹ˆ‹ ƒ”‡ –—––‹ ‹ ‰‡‹ †‹ — ‘”‰ƒ‹•‘ ‡
ƒ••‡‰ƒ”‡ ƒ ‡••‹ —ƒ ˆ—œ‹‘‡ ° —‘ †‡‰Ž‹ ƒ•’‡––‹ ‹‹œ‹ƒŽ‹ †‡ŽŽǯƒ‘–ƒœ‹‘‡ ‡ ”ƒ’’”‡•‡–ƒ ƒ Š‡
‹Ž ’‹î ‹’‡‰ƒ–‹˜‘ ˜‹•–‘ Š‡ ƒ ‘”ƒ ‘‰‰‹ —ƒ ˆ”ƒœ‹‘‡ ‹’‘”–ƒ–‡ †‹ ‰‡‹ ‘ Šƒ —ƒ ˆ—œ‹‘‡
‘‘• ‹—–ƒǤ1 •–ƒ–ƒ •˜‹Ž—’’ƒ–ƒ —ƒ ‘†ƒŽ‹– •–ƒ†ƒ”† ’‡” †‡ˆ‹‹”‡ ‡ ƒ••‡‰ƒ”‡ Ž‡ ˆ—œ‹‘‹ ƒ‹ ’”‘†‘––‹
‰‡‹ ‹ǣ ‹Ž •‹•–‡ƒ †‹ ƒ‘–ƒœ‹‘‡ Gene Ontology ȋ GO annotationȌǤ †‡• ”‹˜‡ Ž‡ ˆ—œ‹‘‹ †‡‹
’”‘†‘––‹ ‰‡‹ ‹ ‹ ‘†‘ ‘’Ž‡–‘ ‘•‹†‡”ƒ†‘ –”‡ ƒ•’‡––‹ǣ ‹Ž ’”‘ ‡••‘ ‡ŽŽ—Žƒ”‡ ȋbiological
processȌǡ Žƒ Ž‘ ƒŽ‹œœƒœ‹‘‡ ‡ŽŽ—Žƒ”‡ ȋcellular component Ȍ ‡ Žƒ ˆ—œ‹‘‡ ‘Ž‡ ‘Žƒ”‡ ȋmolecular
functionȌǤ ǯƒ‘–ƒœ‹‘‡ “—‹†‹ ‘•‹•–‡ ‡ŽŽǯƒ••‘ ‹ƒ”‡ ƒŽ ‰‡‡ –”‡ ƒ––”‹„—–‹ ȋGO attributesȌ Š‡
FIGURA 4.5 S Esempio di una finestra con un browser genomico ) che mostra il gene umano SP1.