                         SEQUENCE LISTING



<110>  Fondazione S. Lucia

 

<120>  Use of dominant negative mutants of Sam68 for the treatment of 

       SMA



<130>  1007-08



<160>  8     



<170>  PatentIn version 3.5



<210>  1

<211>  443

<212>  PRT

<213>  Homo Sapiens



<400>  1



Met Gln Arg Arg Asp Asp Pro Ala Ala Arg Met Ser Arg Ser Ser Gly 

1               5                   10                  15      





Arg Ser Gly Ser Met Asp Pro Ser Gly Ala His Pro Ser Val Arg Gln 

            20                  25                  30          





Thr Pro Ser Arg Gln Pro Pro Leu Pro His Arg Ser Arg Gly Gly Gly 

        35                  40                  45              





Gly Gly Ser Arg Gly Gly Ala Arg Ala Ser Pro Ala Thr Gln Pro Pro 

    50                  55                  60                  





Pro Leu Leu Pro Pro Ser Ala Thr Gly Pro Asp Ala Thr Val Gly Gly 

65                  70                  75                  80  





Pro Ala Pro Thr Pro Leu Leu Pro Pro Ser Ala Thr Ala Ser Val Lys 

                85                  90                  95      





Met Glu Pro Glu Asn Lys Tyr Leu Pro Glu Leu Met Ala Glu Lys Asp 

            100                 105                 110         





Ser Leu Asp Pro Ser Phe Thr His Ala Met Gln Leu Leu Thr Ala Glu 

        115                 120                 125             





Ile Glu Lys Ile Gln Lys Gly Asp Ser Lys Lys Asp Asp Glu Glu Asn 

    130                 135                 140                 





Tyr Leu Asp Leu Phe Ser His Lys Asn Met Lys Leu Lys Glu Arg Val 

145                 150                 155                 160 





Leu Ile Pro Val Lys Gln Tyr Pro Lys Phe Asn Phe Val Gly Lys Ile 

                165                 170                 175     





Leu Gly Pro Gln Gly Asn Thr Ile Lys Arg Leu Gln Glu Glu Thr Gly 

            180                 185                 190         





Ala Lys Ile Ser Val Leu Gly Lys Gly Ser Met Arg Asp Lys Ala Lys 

        195                 200                 205             





Glu Glu Glu Leu Arg Lys Gly Gly Asp Pro Lys Tyr Ala His Leu Asn 

    210                 215                 220                 





Met Asp Leu His Val Phe Ile Glu Val Phe Gly Pro Pro Cys Glu Ala 

225                 230                 235                 240 





Tyr Ala Leu Met Ala His Ala Met Glu Glu Val Lys Lys Phe Leu Val 

                245                 250                 255     





Pro Asp Met Met Asp Asp Ile Cys Gln Glu Gln Phe Leu Glu Leu Ser 

            260                 265                 270         





Tyr Leu Asn Gly Val Pro Glu Pro Ser Arg Gly Arg Gly Val Pro Val 

        275                 280                 285             





Arg Gly Arg Gly Ala Ala Pro Pro Pro Pro Pro Val Pro Arg Gly Arg 

    290                 295                 300                 





Gly Val Gly Pro Pro Arg Gly Ala Leu Val Arg Gly Thr Pro Val Arg 

305                 310                 315                 320 





Gly Ala Ile Thr Arg Gly Ala Thr Val Thr Arg Gly Val Pro Pro Pro 

                325                 330                 335     





Pro Thr Val Arg Gly Ala Pro Ala Pro Arg Ala Arg Thr Ala Gly Ile 

            340                 345                 350         





Gln Arg Ile Pro Leu Pro Pro Pro Pro Ala Pro Glu Thr Tyr Glu Glu 

        355                 360                 365             





Tyr Gly Tyr Asp Asp Thr Tyr Ala Glu Gln Ser Tyr Glu Gly Tyr Glu 

    370                 375                 380                 





Gly Tyr Tyr Ser Gln Ser Gln Gly Asp Ser Glu Tyr Tyr Asp Tyr Gly 

385                 390                 395                 400 





His Gly Glu Val Gln Asp Ser Tyr Glu Ala Tyr Gly Gln Asp Asp Trp 

                405                 410                 415     





Asn Gly Thr Arg Pro Ser Leu Lys Ala Pro Pro Ala Arg Pro Val Lys 

            420                 425                 430         





Gly Ala Tyr Arg Glu His Pro Tyr Gly Arg Tyr 

        435                 440             





<210>  2

<211>  443

<212>  PRT

<213>  Homo Sapiens



<400>  2



Met Gln Arg Arg Asp Asp Pro Ala Ala Arg Met Ser Arg Ser Ser Gly 

1               5                   10                  15      





Arg Ser Gly Ser Met Asp Pro Ser Gly Ala His Pro Ser Val Arg Gln 

            20                  25                  30          





Thr Pro Ser Arg Gln Pro Pro Leu Pro His Arg Ser Arg Gly Gly Gly 

        35                  40                  45              





Gly Gly Ser Arg Gly Gly Ala Arg Ala Ser Pro Ala Thr Gln Pro Pro 

    50                  55                  60                  





Pro Leu Leu Pro Pro Ser Ala Thr Gly Pro Asp Ala Thr Val Gly Gly 

65                  70                  75                  80  





Pro Ala Pro Thr Pro Leu Leu Pro Pro Ser Ala Thr Ala Ser Val Lys 

                85                  90                  95      





Met Glu Pro Glu Asn Lys Tyr Leu Pro Glu Leu Met Ala Glu Lys Asp 

            100                 105                 110         





Ser Leu Asp Pro Ser Phe Thr His Ala Met Gln Leu Leu Thr Ala Glu 

        115                 120                 125             





Ile Glu Lys Ile Gln Lys Gly Asp Ser Lys Lys Asp Asp Glu Glu Asn 

    130                 135                 140                 





Tyr Leu Asp Leu Phe Ser His Lys Asn Met Lys Leu Lys Glu Arg Val 

145                 150                 155                 160 





Leu Ile Pro Val Lys Gln Tyr Pro Lys Phe Asn Phe Val Gly Lys Ile 

                165                 170                 175     





Leu Gly Pro Gln Gly Asn Thr Ile Lys Arg Leu Gln Glu Glu Thr Gly 

            180                 185                 190         





Ala Lys Ile Ser Val Leu Gly Lys Gly Ser Met Arg Asp Lys Ala Lys 

        195                 200                 205             





Glu Glu Glu Leu Arg Lys Gly Gly Asp Pro Lys Tyr Ala His Leu Asn 

    210                 215                 220                 





Met Asp Leu His Phe Phe Ile Glu Val Phe Gly Pro Pro Cys Glu Ala 

225                 230                 235                 240 





Tyr Ala Leu Met Ala His Ala Met Glu Glu Val Lys Lys Phe Leu Val 

                245                 250                 255     





Pro Asp Met Met Asp Asp Ile Cys Gln Glu Gln Phe Leu Glu Leu Ser 

            260                 265                 270         





Tyr Leu Asn Gly Val Pro Glu Pro Ser Arg Gly Arg Gly Val Pro Val 

        275                 280                 285             





Arg Gly Arg Gly Ala Ala Pro Pro Pro Pro Pro Val Pro Arg Gly Arg 

    290                 295                 300                 





Gly Val Gly Pro Pro Arg Gly Ala Leu Val Arg Gly Thr Pro Val Arg 

305                 310                 315                 320 





Gly Ala Ile Thr Arg Gly Ala Thr Val Thr Arg Gly Val Pro Pro Pro 

                325                 330                 335     





Pro Thr Val Arg Gly Ala Pro Ala Pro Arg Ala Arg Thr Ala Gly Ile 

            340                 345                 350         





Gln Arg Ile Pro Leu Pro Pro Pro Pro Ala Pro Glu Thr Tyr Glu Glu 

        355                 360                 365             





Tyr Gly Tyr Asp Asp Thr Tyr Ala Glu Gln Ser Tyr Glu Gly Tyr Glu 

    370                 375                 380                 





Gly Tyr Tyr Ser Gln Ser Gln Gly Asp Ser Glu Tyr Tyr Asp Tyr Gly 

385                 390                 395                 400 





His Gly Glu Val Gln Asp Ser Tyr Glu Ala Tyr Gly Gln Asp Asp Trp 

                405                 410                 415     





Asn Gly Thr Arg Pro Ser Leu Lys Ala Pro Pro Ala Arg Pro Val Lys 

            420                 425                 430         





Gly Ala Tyr Arg Glu His Pro Tyr Gly Arg Tyr 

        435                 440             





<210>  3

<211>  443

<212>  PRT

<213>  Homo Sapiens



<400>  3



Met Gln Arg Arg Asp Asp Pro Ala Ala Arg Met Ser Arg Ser Ser Gly 

1               5                   10                  15      





Arg Ser Gly Ser Met Asp Pro Ser Gly Ala His Pro Ser Val Arg Gln 

            20                  25                  30          





Thr Pro Ser Arg Gln Pro Pro Leu Pro His Arg Ser Arg Gly Gly Gly 

        35                  40                  45              





Gly Gly Ser Arg Gly Gly Ala Arg Ala Ser Pro Ala Thr Gln Pro Pro 

    50                  55                  60                  





Pro Leu Leu Pro Pro Ser Ala Thr Gly Pro Asp Ala Thr Val Gly Gly 

65                  70                  75                  80  





Pro Ala Pro Thr Pro Leu Leu Pro Pro Ser Ala Thr Ala Ser Val Lys 

                85                  90                  95      





Met Glu Pro Glu Asn Lys Tyr Leu Pro Glu Leu Met Ala Glu Lys Asp 

            100                 105                 110         





Ser Leu Asp Pro Ser Phe Thr His Ala Met Gln Leu Leu Thr Ala Glu 

        115                 120                 125             





Ile Glu Lys Ile Gln Lys Gly Asp Ser Lys Lys Asp Asp Glu Glu Asn 

    130                 135                 140                 





Tyr Leu Asp Leu Phe Ser His Lys Asn Met Lys Leu Lys Glu Arg Val 

145                 150                 155                 160 





Leu Ile Pro Val Lys Gln Tyr Pro Lys Phe Asn Phe Val Gly Lys Ile 

                165                 170                 175     





Leu Gly Pro Gln Gly Asn Thr Ile Lys Arg Leu Gln Glu Glu Thr Gly 

            180                 185                 190         





Ala Lys Ile Ser Val Leu Gly Lys Gly Ser Met Arg Asp Lys Ala Lys 

        195                 200                 205             





Glu Glu Glu Leu Arg Lys Gly Gly Asp Pro Lys Tyr Ala His Leu Asn 

    210                 215                 220                 





Met Asp Leu His Val Phe Ile Glu Val Phe Gly Pro Pro Cys Glu Ala 

225                 230                 235                 240 





Tyr Ala Leu Met Ala His Ala Met Glu Glu Val Lys Lys Phe Leu Val 

                245                 250                 255     





Pro Asp Met Met Asp Asp Ile Cys Gln Glu Gln Phe Leu Glu Leu Ser 

            260                 265                 270         





Tyr Leu Asn Gly Val Pro Glu Pro Ser Arg Gly Arg Gly Val Pro Val 

        275                 280                 285             





Arg Gly Arg Gly Ala Ala Pro Pro Pro Pro Pro Val Pro Arg Gly Arg 

    290                 295                 300                 





Gly Val Gly Pro Pro Arg Gly Ala Leu Val Arg Gly Thr Pro Val Arg 

305                 310                 315                 320 





Gly Ala Ile Thr Arg Gly Ala Thr Val Thr Arg Gly Val Pro Pro Pro 

                325                 330                 335     





Pro Thr Val Arg Gly Ala Pro Ala Pro Arg Ala Arg Thr Ala Gly Ile 

            340                 345                 350         





Gln Arg Ile Pro Leu Pro Pro Pro Pro Ala Pro Glu Thr Tyr Glu Glu 

        355                 360                 365             





Tyr Gly Tyr Asp Asp Thr Tyr Ala Glu Gln Ser Tyr Glu Gly Tyr Glu 

    370                 375                 380                 





Gly Tyr Tyr Ser Gln Ser Gln Gly Asp Ser Glu Tyr Tyr Asp Tyr Gly 

385                 390                 395                 400 





His Gly Glu Val Gln Asp Ser Tyr Glu Ala Tyr Gly Gln Asp Asp Trp 

                405                 410                 415     





Asn Gly Thr Arg Pro Ser Leu Lys Ala Pro Pro Ala Arg Pro Val Lys 

            420                 425                 430         





Gly Ala Tyr Ala Glu His Pro Tyr Gly Ala Tyr 

        435                 440             





<210>  4

<211>  93

<212>  PRT

<213>  Homo Sapiens



<400>  4



Gly Ile Gln Arg Ile Pro Leu Pro Pro Pro Pro Ala Pro Glu Thr Tyr 

1               5                   10                  15      





Glu Glu Tyr Gly Tyr Asp Asp Thr Tyr Ala Glu Gln Ser Tyr Glu Gly 

            20                  25                  30          





Tyr Glu Gly Tyr Tyr Ser Gln Ser Gln Gly Asp Ser Glu Tyr Tyr Asp 

        35                  40                  45              





Tyr Gly His Gly Glu Val Gln Asp Ser Tyr Glu Ala Tyr Gly Gln Asp 

    50                  55                  60                  





Asp Trp Asn Gly Thr Arg Pro Ser Leu Lys Ala Pro Pro Ala Arg Pro 

65                  70                  75                  80  





Val Lys Gly Ala Tyr Arg Glu His Pro Tyr Gly Arg Tyr 

                85                  90              




<210>  5

<211>  1332

<212>  DNA

<213>  Homo Sapiens



<400>  5

atgcagcgcc gggacgaccc cgccgcgcgc atgagccggt cttcgggccg tagcggctcc       60



atggacccct ccggtgccca cccctcggtg cgtcagacgc cgtctcggca gccgccgctg      120



cctcaccggt cccggggagg cggaggggga tcccgcgggg gcgcccgggc ctcgcccgcc      180



acgcagccgc caccgctgct gccgccctcg gccacgggtc ccgacgcgac agtgggcggg      240



ccagcgccga ccccgctgct gcccccctcg gccacagcct cggtcaagat ggagccagag      300



aacaagtacc tgcccgaact catggccgag aaggactcgc tcgacccgtc cttcactcac      360



gccatgcagc tgctgacggc agaaattgag aagattcaga aaggagactc aaaaaaggat      420



gatgaggaga attacttgga tttattttct cataagaaca tgaaactgaa agagcgagtg      480



ctgatacctg tcaagcagta tcccaagttc aattttgtgg ggaagattct tggaccacaa      540



gggaatacaa tcaaaagact gcaggaagag actggtgcaa agatctctgt attgggaaag      600



ggctcaatga gagacaaagc caaggaggaa gagctgcgca aaggtggaga ccccaaatat      660



gcccacttga atatggatct gcatgtcttc attgaagtct ttggaccccc atgtgaggct      720



tatgctctta tggcccatgc catggaggaa gtcaagaaat ttctagtacc ggatatgatg      780



gatgatatct gtcaggagca atttctagag ctgtcctact tgaatggagt acctgaaccc      840



tctcgtggac gtggggtgcc agtgagaggc cggggagctg cacctcctcc accacctgtt      900



cccaggggcc gtggtgttgg accacctcgg ggggctttgg tacgtggtac accagtaagg      960



ggagccatca ccagaggtgc cactgtgact cgaggcgtgc cacccccacc tactgtgagg     1020



ggtgctccag caccaagagc acggacagcg ggcatccaga ggataccttt gcctccacct     1080



cctgcaccag aaacatatga agaatatgga tatgatgata catacgcaga acaaagttac     1140



gaaggctacg aaggctatta cagccagagt caaggggact cagaatatta tgactatgga     1200



catggggagg ttcaagattc ttatgaagct tatggccagg acgactggaa tgggaccagg     1260



ccgtcgctga aggcccctcc tgctaggcca gtgaagggag catacagaga gcacccatat     1320



ggacgttatt aa                                                         1332





<210>  6

<211>  1332

<212>  DNA

<213>  Homo Sapiens



<400>  6

atgcagcgcc gggacgaccc cgccgcgcgc atgagccggt cttcgggccg tagcggctcc       60



atggacccct ccggtgccca cccctcggtg cgtcagacgc cgtctcggca gccgccgctg      120



cctcaccggt cccggggagg cggaggggga tcccgcgggg gcgcccgggc ctcgcccgcc      180



acgcagccgc caccgctgct gccgccctcg gccacgggtc ccgacgcgac agtgggcggg      240



ccagcgccga ccccgctgct gcccccctcg gccacagcct cggtcaagat ggagccagag      300



aacaagtacc tgcccgaact catggccgag aaggactcgc tcgacccgtc cttcactcac      360



gccatgcagc tgctgacggc agaaattgag aagattcaga aaggagactc aaaaaaggat      420



gatgaggaga attacttgga tttattttct cataagaaca tgaaactgaa agagcgagtg      480



ctgatacctg tcaagcagta tcccaagttc aattttgtgg ggaagattct tggaccacaa      540



gggaatacaa tcaaaagact gcaggaagag actggtgcaa agatctctgt attgggaaag      600



ggctcaatga gagacaaagc caaggaggaa gagctgcgca aaggtggaga ccccaaatat      660



gcccacttga atatggatct gcatttcttc attgaagtct ttggaccccc atgtgaggct      720



tatgctctta tggcccatgc catggaggaa gtcaagaaat ttctagtacc ggatatgatg      780



gatgatatct gtcaggagca atttctagag ctgtcctact tgaatggagt acctgaaccc      840



tctcgtggac gtggggtgcc agtgagaggc cggggagctg cacctcctcc accacctgtt      900



cccaggggcc gtggtgttgg accacctcgg ggggctttgg tacgtggtac accagtaagg      960



ggagccatca ccagaggtgc cactgtgact cgaggcgtgc cacccccacc tactgtgagg     1020



ggtgctccag caccaagagc acggacagcg ggcatccaga ggataccttt gcctccacct     1080



cctgcaccag aaacatatga agaatatgga tatgatgata catacgcaga acaaagttac     1140



gaaggctacg aaggctatta cagccagagt caaggggact cagaatatta tgactatgga     1200



catggggagg ttcaagattc ttatgaagct tatggccagg acgactggaa tgggaccagg     1260



ccgtcgctga aggcccctcc tgctaggcca gtgaagggag catacagaga gcacccatat     1320



ggacgttatt aa                                                         1332





<210>  7

<211>  1332

<212>  DNA

<213>  Homo Sapiens



<400>  7

atgcagcgcc gggacgaccc cgccgcgcgc atgagccggt cttcgggccg tagcggctcc       60



atggacccct ccggtgccca cccctcggtg cgtcagacgc cgtctcggca gccgccgctg      120



cctcaccggt cccggggagg cggaggggga tcccgcgggg gcgcccgggc ctcgcccgcc      180



acgcagccgc caccgctgct gccgccctcg gccacgggtc ccgacgcgac agtgggcggg      240



ccagcgccga ccccgctgct gcccccctcg gccacagcct cggtcaagat ggagccagag      300



aacaagtacc tgcccgaact catggccgag aaggactcgc tcgacccgtc cttcactcac      360



gccatgcagc tgctgacggc agaaattgag aagattcaga aaggagactc aaaaaaggat      420



gatgaggaga attacttgga tttattttct cataagaaca tgaaactgaa agagcgagtg      480



ctgatacctg tcaagcagta tcccaagttc aattttgtgg ggaagattct tggaccacaa      540



gggaatacaa tcaaaagact gcaggaagag actggtgcaa agatctctgt attgggaaag      600



ggctcaatga gagacaaagc caaggaggaa gagctgcgca aaggtggaga ccccaaatat      660



gcccacttga atatggatct gcatgtcttc attgaagtct ttggaccccc atgtgaggct      720



tatgctctta tggcccatgc catggaggaa gtcaagaaat ttctagtacc ggatatgatg      780



gatgatatct gtcaggagca atttctagag ctgtcctact tgaatggagt acctgaaccc      840



tctcgtggac gtggggtgcc agtgagaggc cggggagctg cacctcctcc accacctgtt      900



cccaggggcc gtggtgttgg accacctcgg ggggctttgg tacgtggtac accagtaagg      960



ggagccatca ccagaggtgc cactgtgact cgaggcgtgc cacccccacc tactgtgagg     1020



ggtgctccag caccaagagc acggacagcg ggcatccaga ggataccttt gcctccacct     1080



cctgcaccag aaacatatga agaatatgga tatgatgata catacgcaga acaaagttac     1140



gaaggctacg aaggctatta cagccagagt caaggggact cagaatatta tgactatgga     1200



catggggagg ttcaagattc ttatgaagct tatggccagg acgactggaa tgggaccagg     1260



ccgtcgctga aggcccctcc tgctaggcca gtgaagggag catacgcaga gcacccatat     1320



ggagcttatt aa                                                         1332





<210>  8

<211>  282

<212>  DNA

<213>  Homo Sapiens



<400>  8

ggcatccaga ggataccttt gcctccacct cctgcaccag aaacatatga agaatatgga       60



tatgatgata catacgcaga acaaagttac gaaggctacg aaggctatta cagccagagt      120



caaggggact cagaatatta tgactatgga catggggagg ttcaagattc ttatgaagct      180



tatggccagg acgactggaa tgggaccagg ccgtcgctga aggcccctcc tgctaggcca      240



gtgaagggag catacagaga gcacccatat ggacgttatt aa                         282

