Biologia Molecolare

5 / 14

SEQUENZIAMENTO E ANNOTAZIONE DEI GENOMI Paragrafo 4.2 [ 85]
‰‡‘‹ ‘ •‘‘ ‡–‹– •–ƒ–‹ Š‡ ‡ ‹—–ƒ„‹Ž‹ǡ ƒŽ ‘–”ƒ”‹‘ •‘‘ •–”—––—”‡ †‹ƒ‹ Š‡ Š‡
˜ƒ‘ ‹ ‘–”‘ ƒ ‘†‹ˆ‹ ƒœ‹‘‹ ƒ Š‡ ‹’‘”–ƒ–‹ ‡ŽŽƒ –”ƒ•‹••‹‘‡ ‡”‡†‹–ƒ”‹ƒ ƒŽŽƒ ’”‘‰‡‹‡Ǥ ‹’‘”–ƒ–‡ †ƒ–‘ Š‡ ‡‡”‰‡ †ƒŽŽǯ‡‘”‡ ‘Ž‡ †‹ †ƒ–‹ ‰‡‘‹ ‹ ƒ––—ƒŽ‡–‡ ’”‡•‡–‡ ‡ŽŽ‡
„ƒ Š‡ †ƒ–‹ ° Žƒ •–”ƒ‘”†‹ƒ”‹ƒ ‘•‡”˜ƒœ‹‘‡ ƒ Ž‹˜‡ŽŽ‘ ‘Ž‡ ‘Žƒ”‡ –”ƒ Ž‡ •’‡ ‹‡ ˜‹˜‡–‹Ǥ ƒ †‹˜‡”Ǧ
•‹– †‡ŽŽ‡ ˆ‘”‡ ˜‹˜‡–‹ •—ŽŽƒ –‡””ƒ •‘‘ —‹ˆ‹ ƒ–‡ †ƒ –‡‹ ‘—‹ Š‡ ”‹‰—ƒ”†ƒ‘ •‹ƒ ’”‘ ‡••‹
‘Ž‡ ‘Žƒ”‹ Š‡ ‘’‘”–ƒ‡–‹ „‹‘Ž‘‰‹ ‹Ǥ ǯƒƒŽ‹•‹ ‡ ‹Ž ‘ˆ”‘–‘ †‹ ‘Ž–‹ ‰‡‘‹ ‡˜‹†‡œ‹ƒ‘
‘‡ ‘Ž–‹ ‰‡‹ •‘‘ •‹‹Ž‹ –”ƒ ˜ƒ”‹‡ ˆ‘”‡ ˜‹˜‡–‹ ‘•¿ ‘‡ ƒŽ–”‹ –‹’‹ †‹ •‡“—‡œ‡ ‰‡‘‹ Š‡Ǥ—‡•–‘ •‹‰‹ˆ‹ ƒ Š‡ ƒ Š‡ ‹ ’”‘ ‡••‹ †‹ ‡•’”‡••‹‘‡ †‡ŽŽǯ‹ˆ‘”ƒœ‹‘‡ ‰‡‡–‹ ƒ ‹ ˆ‘”‡ ˆ—Ǧ
œ‹‘ƒŽ‹ •‘‘ •‹‹Ž‹ –”ƒ ‹ ˜ƒ”‹ ‘”‰ƒ‹•‹Ǥ Ž ‘ˆ”‘–‘ †‡‹ ‰‡‘‹ ’‡”–ƒ–‘ ’‡”‡––‡ ‹†ƒ‰‹‹
ƒ’’”‘ˆ‘†‹–‡ †‡ŽŽǯ‡˜‘Ž—œ‹‘‡ †‡ŽŽƒ ˜‹–ƒ •—ŽŽƒ –‡””ƒ ‡ †‹ •–ƒ„‹Ž‹”‡ Ž‡ ”‡Žƒœ‹‘‹ ‡˜‘Ž—–‹˜‡ –”ƒ Ž‡ •’‡Ǧ
‹‡ ‘ Žƒ ‘•–”—œ‹‘‡ †‹ alberi filogeneticiǤ ‡ŽŽ‘ •–‡••‘ –‡’‘ǡ “—‡•–‡ ‘••‡”˜ƒœ‹‘‹ ˆ‘”‹• ‘Ǧ
‘ —ƒ •‘Ž‹†ƒ „ƒ•‡ ”ƒœ‹‘ƒŽ‡ ‡ • ‹‡–‹ˆ‹ ƒ ’‡” Žǯ—–‹Ž‹œœ‘ †‹ organismi modello ‘ •‘Ž‘ ’‡” Žƒ
”‹ ‡” ƒ †‹ „ƒ•‡ †‡‹ ’”‘ ‡••‹ ‘Ž‡ ‘Žƒ”‹ ƒ ƒ Š‡ ’‡” Žƒ ”‹ ‡” ƒ ƒ’’Ž‹ ƒ–ƒ ˜‘Ž–ƒǡ ’‡” ‡•‡’‹‘ǡ
ƒŽŽƒ • ‘’‡”–ƒ †‡‹ ‡ ƒ‹•‹ †‡ŽŽ‡ ’ƒ–‘Ž‘‰‹‡ ‘ ’‡” Ž‘ •˜‹Ž—’’‘ †‹ —‘˜‹ ƒ‰‡–‹ –‡”ƒ’‡—–‹ ‹ ’‡”
ƒŽƒ––‹‡ —ƒ‡Ǥ
 4.2  SEQUENZIAMENTO E ANNOTAZIONE DEI GENOMIŽ ’”‘‰‡––‘ Genoma Umano ° ’ƒ”–‹–‘ ‡Ž ͳͻͻͲ •— ‹‹œ‹ƒ–‹˜ƒ ’—„„Ž‹ ƒ †‡‹ National Institutes of
Health ȋNIHȌ ‡ †‡Ž Department of Energy †‡Ž ‰‘˜‡”‘ •–ƒ–—‹–‡•‡ǡ Š‡ Šƒ‘ ‘•–‹–—‹–‘ —
ƒ’’‘•‹–‘ ‘•‘”œ‹‘ ȋInternational Human Genome Sequencing ConsortiumȌ Š‡ ‹ Ž—†‡˜ƒ ƒŽ–”‡
ʹͲ ‹•–‹–—œ‹‘‹ • ‹‡–‹ˆ‹ Š‡ †‡‰Ž‹ ǡ ”ƒ ”‡–ƒ‰ƒǡ ”ƒ ‹ƒǡ ‡”ƒ‹ƒǡ ‹ƒ ‡ ‹ƒ’’‘‡Ǥ Ž ‘Ǧ
‘”†‹ƒ‡–‘ †‡Ž ’”‘‰‡––‘ ˆ— ƒˆˆ‹†ƒ–‘ ƒŽ ‡–”‘ †‹ ‹ ‡” ƒ ‰‡‘‹ ƒ †‡ŽŽǯ †‹”‡––‘ †ƒ ”ƒ ‹•
‘ŽŽ‹• ȋFigura 4.2bȌǡ ‡ ƒŽŽǯ‹‹œ‹‘ Žǯ‹’”‡•ƒ •‡„”ƒ˜ƒ –‹–ƒ‹ ƒǤ Ž ’”‘‰‡––‘ ‡‘ƒ ƒ‘ ˆ—Ǧ
œ‹‘Ö •—„‹–‘ ‘‡ — ƒ–ƒŽ‹œœƒ–‘”‡ †‹ ’”‘‰”‡••‹˜‹ ƒ˜ƒœƒ‡–‹ –‡ ‘Ž‘‰‹ ‹ Š‡ Šƒ‘ ”‡•‘
•‡’”‡ ’‹î ‡ ‘‘‹ ‘ ‡ •‡’Ž‹ ‡ •‡“—‡œ‹ƒ”‡ —ƒ Ž—‰ƒ ‡ ‘’Ž‡••ƒ •‡“—‡œƒ †‹ — Ž‡‘–‹†‹ǤŽ ’”‘‰‡––‘ •—„¿ “—‹†‹ —ƒ ˆ‘”–‡ ƒ ‡Ž‡”ƒœ‹‘‡ ˆ‹‘ ƒ –ƒŽ ’—–‘ Š‡ ˆ— –‡”‹ƒ–‘ ‘ †—‡ ƒ‹
†‹ ƒ–‹ ‹’‘ ”‹•’‡––‘ ƒŽ –‡”‹‡ ’”‡˜‹•–‘ ‹‹œ‹ƒŽ‡–‡Ǥ ’”‘‰”‡••‹ –‡ ‘Ž‘‰‹ ‹ ‹‘Ž–”‡ •–‹‘Žƒ”‘Ǧ
‘ Žƒ ƒ• ‹–ƒ ‡Ž ͳͻͻ͹ †‹ —ǯ‹’”‡•ƒ ’”‹˜ƒ–ƒǡ Žƒ Celera Genomics †‹ Ǥ ”ƒ‹‰ ‡–‡” ȋFigura 4.2aȌǡ
‘ Žǯ‘„‹‡––‹˜‘ †‹ •‡“—‡œ‹ƒ”‡ Žǯ‹–‡”‘ ‰‡‘ƒ —ƒ‘ ‹ –‡’‹ ’‹î ”ƒ’‹†‹Ǥ †—‡ ’”‘‰‡––‹ ’—„„Ž‹Ǧ
ƒ”‘‘ Žƒ ’”‹ƒ „‘œœƒ †‡Ž ‰‡‘ƒ —ƒ‘ ‘–‡’‘”ƒ‡ƒ‡–‡ ‡Ž ʹͲͲͳǡ ‡ ‹ˆ‹‡ Žƒ •‡“—‡œƒ
‘’Ž‡–ƒ ‡Ž ʹͲͲͶ ‘–ƒ ‘‡ NCBI Human Build 35 (May 2004)Ǥ
ǯƒ’’”‘ ‹‘ ‡–‘†‘Ž‘‰‹ ‘ —–‹Ž‹œœƒ–‘ †ƒŽ ‘•‘”œ‹‘ ’—„„Ž‹ ‘ ’‡” ‹Ž •‡“—‡œ‹ƒ‡–‘ †‡Ž ‡Ǧ
‘ƒ —ƒ‘ ’”‡˜‡†‡˜ƒ †‹ ˆ”ƒ‡–ƒ”‡ ‹Ž ‰‡‘ƒ ‘ ‡œ‹‹ †‹ ”‡•–”‹œ‹‘‡ ‡ “—‹†‹ Ž‘ƒ”‡
ˆ”ƒ‡–‹ Ž—‰Š‹ ‹ ˜‡––‘”‹ BAC ȋBacterial Artificial ChromosomeȌ ‡ YAC ȋYeast Artificial Chro-
mosomeȌ ȋFigura 4.3ȌǤ —‡•–‹ ˜‡––‘”‹ ’‡”‡––‘‘ †‹ Ž‘ƒ”‡ ‹•‡”–‹ †‹ ‘Ž–‘ Ž—‰Š‹ ”‹Ǧ
•’‡––‹˜ƒ‡–‡ ‹ E. coli ‡ ‹ S. cerevisiae Ǥ —‹†‹ǡ •‹ ’”‘ ‡†‡˜ƒ ƒ ‹†‡–‹ˆ‹ ƒ”‡ ‹ Ž‘‹ Š‡ ‡”ƒ‘
•‘˜”ƒ’’‘•–‹ ƒ––”ƒ˜‡”•‘ ”‘••Ǧ‹„”‹†ƒœ‹‘‡ ‡ ƒŽ–”‹ ‡–‘†‹ǡ ‡ Š‡ ˜‡‹˜ƒ‘ “—‹†‹ ƒŽŽ‹‡ƒ–‹ ‹ —ƒ
•‡”‹‡ †‹ contigǡ –”ƒ––‹ ”‘‘•‘ƒŽ‹ ‘–‹‰—‹Ǥ ˜ƒ”‹ ‘–‹‰ ‘–‡‡˜ƒ‘ —‘ ‘ ’‹î ƒ” ƒ–‘”‹
”‘‘•‘ƒŽ‹ ’”‡ ‡†‡–‡‡–‡ ƒ”ƒ––‡”‹œœƒ–‹ǡ ‘‡ Ž‡ STS ȋSequence Tagged SitesȌ ‘ ‰‡‹
‡•’”‡••‹ ‡ ‹†‡–‹ˆ‹ ƒ–‹ ‘ Ž‡ EST ȋExpressed Sequence TagsȌǤ —‡•–‹ marcatori †‹ ’‘•‹œ‹‘‡
”‘‘•‘ƒŽ‡ •‘‘ •–ƒ–‹ ‡••‡œ‹ƒŽ‹ ’‡” Žƒ ‘•–”—œ‹‘‡ †‡‹ ‘–‹‰ ‡ ’‡” Žƒ ˆƒ•‡ •— ‡••‹˜ƒ †‹ as-
a) b)
FIGURA 4.2 W Craig Venter (a ) e Francis Collins (b) leader
scientifici del Progetto Genoma Umano, rispettivamente,
della Celera Genomics e del Consorzio di Istituzioni di ricerca
Internazionali.