Corso di Laurea Ostetricia
Corso di Laurea Infermieristica
Biologia e Genetica
Prof. Cinzia Di Pietro
RECAPITI
Cinzia Di Pietro
[email protected]
095 – 3782077
Via S. Sofia 87
Pal. C - piano 2 - stanza 010
La cellula è l’unità fondamentale di tutti gli
organismi viventi
Tutti gli organismi viventi sono formati da
cellule
Non esiste alcuna forma di vita se non a
livello cellulare
The Nobel Prize in
Physiology or Medicine 2006
RNA INTERFERENCE
Andrew Z. Fire
Craig C. Mello
Stanford University
University of Massachusetts
School of Medicine
Medical School
This year's Nobel Prize in Physiology or Medicine is
shared by Professor Andrew Z. Fire at Stanford University,
California, USA, and Professor Craig C. Mello at the
University of Massachusetts Medical School in Worcester,
USA. They receive the prize for their discovery that
double-stranded RNA triggers suppression of gene activity
in a homology-dependent manner, a process named RNA
interference (RNAi). Their discovery revealed a new
mechanism for gene regulation, and the biochemical
machinery involved plays a key role in many essential
cellular processes. Double-stranded RNA synthesized
within the cell can reduce or abolish gene activity by RNAilike mechanisms. This control system for gene expression
has proven to be important for both the development of an
organism and the physiological functions of cells and
tissues. Furthermore, RNAi protects against RNA virus
infections, especially in plants and invertebrate animals,
and secures genome stability by keeping mobile elements
silent. Today, double-stranded RNA is used as a powerful
tool to experimentally elucidate the function of essentially
any gene in a cell. The discovery of RNAi has already
had an immense impact on biomedical research and
will most likely lead to novel medical applications in
the future.
•
GCGGCGGCGGGCGGGTACTGGCTTCTGGGGCCAGGGGCCAGGGGCGGTGGGCGCCGGGACCGCGGAGCTGAGGA
GCGGGGCCCGGCCAGGGCTGGAGACTTTGCGCCCGGGGGCACCGGGGCTGCGCGCGGTCGCACACATCCACCGGC
GCGGCTTCCCTCGGCGGCCCGGGCTCCGCTCATCCTGCGGCGGGCGGCGCCGCTCAGGGGCGGGAAGAGGAGGCG
GTAGACGCGACCACAGAAGATGTCGGGCCAAACGCTCACGGATCGGATCGCCGCCGCTCAGTACAGCGTTACAGGCT
CTGCTGTAGCAAGAGCGGTCTGCAAAGCCACTACTCATGAAGTAATGGGCCCCAAGAAAAAGCACCTGGACTATTTGAT
CCAGGCTACCAACGAGACCAATGTTAATATTCCTCAGATGGCCGACACTCTCTTTGAGCGGGCAACAAACAGTAGCTGG
GTGGTTGTGTTTAAGGCTTTAGTGACAACACATCATCTCATGGTGCATGGAAATGAGAGATTTATTCAATATTTGGCTTC
TAGAAATACACTATTCAATCTCAGCAATTTTTTGGACAAAAGTGGATCCCATGGTTATGATATGTCTACCTTCATAAGGCG
CTATAGTAGATATTTGAATGAAAAGGCTTTTTCTTACAGACAGATGGCCTTTGATTTTGCCAGGGTGAAGAAAGGGGCC
GATGGTGTAATGAGGACAATGGCTCCCGAAAAGCTGCTAAAGAGTATGCCAATACTACAGGGACAAATTGATGCACTGC
TTGAATTTGATGTGCATCCAAATGAACTAACAAATGGTGTCATAAATGCAGCATTTATGCTTCTTTTCAAAGATCTTATCA
AACTTTTTGCTTGCTACAATGATGGTGTTATTAACTTACTCGAAAAGTTTTTTGAAATGAAGAAAGGACAATGTAAAGATG
CTCTAGAAATTTACAAACGATTTCTAACTAGAATGACACGAGTGTCTGAATTTCTCAAGGTTGCAGAGCAAGTTGGTATT
GATAAAGGTGACATTCCTGACCTCACACAGGCTCCCAGCAGTCTTATGGAGACGCTTGAACAGCATCTAAATACATTAG
AAGGAAAGAAACCTGGAAACAATGAAGGATCTGGTGCTCCCTCTCCATTAAGTAAGTCTTCTCCAGCCACAACTGTTAC
GTCTCCTAATTCTACACCAGCTAAAACTATTGACACATCCCCACCGGTTGATTTATTTGCAACTGCATCTGCGGCTGTCC
CAGTCAGCACTTCTAAACCATCTAGTGATCTCCTGGACCTCCAGCCAGACTTTTCCTCTGGAGGGGCAGCAGCAGCCG
CAGCACCAGCACCACCACCACCTGCTGGAGGAGCCACTGCATGGGGAGACCTTTTGGGAGAGGATTCTTTGGCTGCA
CTTTCCTCTGTTCCCTCTGAAGCACAGATTTCAGATCCATTTGCACCAGAACCTACCCCTCCTACTACAACTGCTGAAAT
TGCAACCACTACTGCTGCCACCGCCGCTGCCACCACCACTACCATTCATCTCTTGCCAGCTTAGTAGGCAATCTTGGAA
TTTCTGGTACCACAACAAAAAAGGGAGATCTTCAGTGGAATGCTGGAGAGAAAAAGTTGACTGGTGGAGCCAACTGGC
AGCCTAAAGTAGCTCCAGCAACCTGGTCAGCAGGCGTTCCACCAAGTGCACCTTTGCAAGGAGCTGTACCTCCAACCA
GTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGCCTCCTGCTGGGACAG
GCATGCCCATGATGCCTCAGCAGCCGGTCATGTTTGCACAGCCCATGATGAGGCCCCCCTTTGGAGCTGCCGCTGTAC
CTGGCACGCAGCTTTCTCCAAGCCCTACACCTGCCAGTCAGAGTCCCAAGAAACCTCCAGCAAAGGACCCATTAGCGG
ATCTTAACATCAAGGATTTCTTGTAAACAATTTAAGCTGCAATATTTGTGACTGAATAGGAAAATAAATGAGTTTGGAGAC
TTCAAATAAGATTGATGCTGAGTTTCAAAGGGAGCCACCAGTACCAAACCCAATACTTACTCATAACTTCTCTTCCAAAAT
GTGTAACACAGCCGTGAAAGTGAACATTAGGAATATGTACTACCTTAGCTGTTATCCCTACTCTTGAAATTGTAGTGTAT
TTGGATTATTTGTGTATTGTACGATGTAAACAATGAATGGATGTTACTGATGCCGTTAGTGCTTTTTTGGACTTCACCTGA
GGACAGATGATGCAGCTGTTGTGTGGCGAGCTATTTGGAAAGACGTCTGTGTTTTTGAAGGTTTCAATGTACATATAAC
TTTTGAACAAACCCCAAACTCTTCCCATAAATTATCTTTTCTTCTGTATCTCTGTTACAAGCGTAGTGTGATAATACCAGA
9
6
6
TAATAAGGAAAACACTCATAAATATACAAAACTTTTTCAGTGTGGAGTACATTTTTCCAATCACAGGAACTTCAACTGTTG
TGAGAAATGTTTATTTTTGTGGCACTGTATATGTTAAGAAATTTTATTTTAAAAAATATAAAGGTTAACGTCCATAATAAAT
ACTTCTCTTTGAAGCTACCTTATCAAGAACGAAAAATCGTATGGGAAGAATCCCCTATTTATCACTGCTATATTAAAATAT
ATATATTTTAATTATATTTGACAGGTTTTGCATCTAAATTGACCTATTTATTCATTCTTGATTAAATGCACTGAAAAGTAAAA
TTTAAAAGTGGTTGTATCTGAATTTACTGTGGGGATAACATACACTGTAATGGGGAAAAATTACCTAAAACCAATTTCAAA
ATGGCTTTCTTTGTATTTCAGTTTAAAAACCCAGTGCATGTACGCCCTCTGAGATGCAATAAACACCTTGAACAAAG
Human Genome Project
3*10 bp
150*10 bp
1-5*10 bp
Dogma centrale della Biologia
DNA
RNA
PROTEINE
Human Genome Project
1990 – 2001 – ………….
15 February 2001
Studio delle malattie genetiche
Tutte le malattie hanno una componente genetica
Ad eredità mendeliana
Talassemia, falcemia, fibrosi cistica
Malattie genetiche
Fenotipi complessi
Neoplasie, malattie degenerative
Oltre alle classiche malattie genetiche,
la risposta a stress ambientali, a virus, a tossine
dipendono dal genoma individuale.
Variazioni della sequenza del genoma quindi
causano o contribuiscono
all’insorgenza di malattie.
Human Genome Project
1990 – 2001 – ………..
Studio delle malattie genetiche
Diagnosi
Cura
Prevenzione
MEDICINA MOLECOLARE
Struttura e funzione della cellula
• la cellula come base dell’organizzazione
elementare della vita
• composizione e struttura dei carboidrati, lipidi,
acidi nucleici e proteine
• principi di classificazione degli organismi
viventi
• virus (modalità di infezione, ciclo litico e ciclo
lisogenico)
• la cellula procariotica. Classificazione dei
procarioti
Organizzazione della cellula eucariotica
• Le Membrane Cellulari
• I Meccanismi di trasporto attraverso le
membrane
• Il Citoscheletro
• Reticolo endoplasmatico liscio e rugoso,
l’Apparato del Golgi, Lisosomi e Perossisomi
• I Mitocondri
• Il Nucleo
• La Trasduzione del segnale
Il gene eucariotico
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•
•
•
La Trascrizione
La Sintesi proteica
La Regolazione dell’espressione genica
Le Mutazioni geniche
Il ciclo cellulare
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•
•
•
La duplicazione del DNA
La Mitosi e la Meiosi
Lo Studio del Cariotipo
I Meccanismi di Regolazione del Ciclo
Cellulare
• Il Fenotipo Neoplastico
Ereditarietà
• Eredità Mendeliana
• Eredità associata al cromosoma X ed al
cromosoma Y
• Eredità Multifattoriale
• Malattie genetiche
Il Progetto Genoma Umano
Libri di testo consigliati
• Alberts e al. L’Essenziale Zanichelli
• Chieffi et al Biologia e Genetica Edises
• Campbell et al. L’essenziale di Biologia
Pearson
