﻿               SEQUENCE LISTING

<110> Dr. Prof. Ritva Hannele Tikkanen

<120> PHARMACEUTICAL COMPOSITIONS, USES THEREOF AND METHODS FOR TREATMENT OF GENETIC DISEASES CAUSED BY INTRONIC SPLICE-ACCEPTOR SITE MUTATIONS

<130> 1434PA22001WO

<160> 28

<170> BiSSAP 1.3.6

<210> 1
<211> 31
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 1
ctataaagct tagggacgcc tgagcgaacc c                                   31


<210> 2
<211> 35
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 2
ctatactcga gctgactctc ctactaaaag tgtgt                                35


<210> 3
<211> 34
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 3
ctaggatcca tgcaagcaga gctgctgctc cctg                                 34


<210> 4
<211> 34
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 4
ctatactcga gcagggctac tgtagaccca ggtg                                 34


<210> 5
<211> 36
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 5
ctatactcga gaagacgcca aaaacataaa gaaagg                               36


<210> 6
<211> 32
<212> DNA
<213> Artificial Sequence


<220> 
<223> Primer sequence for cloning of the AGA and TPP1 minigene
      construct. Sequence is shown in 5’ to 3’ direction

<400> 6
ctatatctag attacacggc gatctttccg cc                                   32


<210> 7
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 7
agatgagtat gcctgccgtg tg                                             22


<210> 8
<211> 21
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 8
tgcggcatct tcaaacctcc a                                              21


<210> 9
<211> 23
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 9
cctggaggag aagaggaaag aga                                            23


<210> 10
<211> 25
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 10
ttgaggacct ctgtgtattt gtcaa                                          25


<210> 11
<211> 20
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 11
aggttgccgc tggtgatgac                                                20


<210> 12
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 12
ggccagaccc agtctgatag ga                                             22


<210> 13
<211> 23
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 13
gactattggt gttctgaata ggc                                            23


<210> 14
<211> 23
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 14
ggaatcccta tctttagtcc aat                                            23


<210> 15
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 15
cggctctgta ggctttggag ga                                             22


<210> 16
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 16
ccagtacttt ccgtgccaca cc                                             22


<210> 17
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 17
atggccgtgt aggagactca cc                                             22


<210> 18
<211> 22
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 18
acagcttggt agcttggcag ga                                             22


<210> 19
<211> 20
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 19
ctgtgcccag ttcctggagc                                                20


<210> 20
<211> 20
<212> DNA
<213> Artificial Sequence


<220> 
<223> Sequence of primer used for the quantitative real-time PCR.
      Sequence is shown in 5’ to 3’ direction

<400> 20
ggcaactaga aggcacagtc                                                20


<210> 21
<211> 806
<212> DNA
<213> Homo sapiens


<220> 
<223> Wildtype AGA cDNA sequence (coding region, exons 1-7 only)

<400> 21
atggcgcgga agtcgaactt gcctgtgctt ctcgtgccgt ttctgctctg ccaggcccta      60

gtgcgctgct ccagccctct gcccctggtc gtcaacactt ggccctttaa gaatgcaacc     120

gaagcagcgt ggagggcatt agcatctgga ggctctgccc tggatgcagt ggagagcggc     180

tgtgccatgt gtgagagaga gcagtgtgac ggctctgtag gctttggagg aagtcctgat     240

gaacttggag aaaccacact agatgccatg atcatggatg gcactactat ggatgtagga     300

gcagtaggag atctcagacg aattaaaaat gctattggtg tggcacggaa agtactggaa     360

catacaacac acacactttt agtaggagag tcagccacca catttgctca aagtatgggg     420

tttatcaatg aagacttatc taccactgct tctcaagctc ttcattcaga ttggcttgct     480

cggaattgcc agccaaatta ttggaggaat gttataccag atccctcaaa atactgcgga     540

ccctacaaac cacctggtat cttaaagcag gatattccta tccataaaga aacagaagat     600

gatcgtggtc atgacactat tggcatggtt gtaatccata agacaggaca tattgctgct     660

ggtacatcta caaatggtat aaaattcaaa atacatggcc gtgtaggaga ctcaccaata     720

cctggagctg gagcctatgc tgacgatact gcaggggcag ccgcagccac tgggaatggt     780

gatatattga tgcgcttcct gccaag                                          806


<210> 22
<211> 346
<212> PRT
<213> Homo sapiens


<220> 
<223> Protein sequence to Wildtype AGA cDNA sequence (coding region,
      exons 1-7 only)

<400> 22
Met Ala Arg Lys Ser Asn Leu Pro Val Leu Leu Val Pro Phe Leu Leu 
1               5                   10                  15      
Cys Gln Ala Leu Val Arg Cys Ser Ser Pro Leu Pro Leu Val Val Asn 
            20                  25                  30          
Thr Trp Pro Phe Lys Asn Ala Thr Glu Ala Ala Trp Arg Ala Leu Ala 
        35                  40                  45              
Ser Gly Gly Ser Ala Leu Asp Ala Val Glu Ser Gly Cys Ala Met Cys 
    50                  55                  60                  
Glu Arg Glu Gln Cys Asp Gly Ser Val Gly Phe Gly Gly Ser Pro Asp 
65                  70                  75                  80  
Glu Leu Gly Glu Thr Thr Leu Asp Ala Met Ile Met Asp Gly Thr Thr 
                85                  90                  95      
Met Asp Val Gly Ala Val Gly Asp Leu Arg Arg Ile Lys Asn Ala Ile 
            100                 105                 110         
Gly Val Ala Arg Lys Val Leu Glu His Thr Thr His Thr Leu Leu Val 
        115                 120                 125             
Gly Glu Ser Ala Thr Thr Phe Ala Gln Ser Met Gly Phe Ile Asn Glu 
    130                 135                 140                 
Asp Leu Ser Thr Thr Ala Ser Gln Ala Leu His Ser Asp Trp Leu Ala 
145                 150                 155                 160 
Arg Asn Cys Gln Pro Asn Tyr Trp Arg Asn Val Ile Pro Asp Pro Ser 
                165                 170                 175     
Lys Tyr Cys Gly Pro Tyr Lys Pro Pro Gly Ile Leu Lys Gln Asp Ile 
            180                 185                 190         
Pro Ile His Lys Glu Thr Glu Asp Asp Arg Gly His Asp Thr Ile Gly 
        195                 200                 205             
Met Val Val Ile His Lys Thr Gly His Ile Ala Ala Gly Thr Ser Thr 
    210                 215                 220                 
Asn Gly Ile Lys Phe Lys Ile His Gly Arg Val Gly Asp Ser Pro Ile 
225                 230                 235                 240 
Pro Gly Ala Gly Ala Tyr Ala Asp Asp Thr Ala Gly Ala Ala Ala Ala 
                245                 250                 255     
Thr Gly Asn Gly Asp Ile Leu Met Arg Phe Leu Pro Ser Tyr Gln Ala 
            260                 265                 270         
Val Glu Tyr Met Arg Arg Gly Glu Asp Pro Thr Ile Ala Cys Gln Lys 
        275                 280                 285             
Val Ile Ser Arg Ile Gln Lys His Phe Pro Glu Phe Phe Gly Ala Val 
    290                 295                 300                 
Ile Cys Ala Asn Val Thr Gly Ser Tyr Gly Ala Ala Cys Asn Lys Leu 
305                 310                 315                 320 
Ser Thr Phe Thr Gln Phe Ser Phe Met Val Tyr Asn Ser Glu Lys Asn 
                325                 330                 335     
Gln Pro Thr Glu Glu Lys Val Asp Cys Ile 
            340                 345     

<210> 23
<211> 760
<212> DNA
<213> Homo sapiens


<220> 
<223> Patient cDNA clones 1, 3, 4, 5: exon 2 spliced out

<400> 23
atggcgcgga agtcgaactt gcctgtgctt ctcgtgccgt ttctgctctg ccaggcccta      60

gtgcgctgct ccagccctct gcccctggtc gtcaacactt ggccctttaa gaatgcaacc     120

gaagcagcac tactatggat gtaggagcag taggagatct cagacgaatt aaaaatgcta     180

ttggtgtggc acggaaagta ctggaacata caacacacac acttttagta ggagagtcag     240

ccaccacatt tgctcaaagt atggggttta tcaatgaaga cttatctacc actgcttctc     300

aagctcttca ttcagattgg cttgctcgga attgccagcc aaattattgg aggaatgtta     360

taccagatcc ctcaaaatac tgcggaccct acaaaccacc tggtatctta aagcaggata     420

ttcctatcca taaagaaaca gaagatgatc gtggtcatga cactattggc atggttgtaa     480

tccataagac aggacatatt gctgctggta catctacaaa tggtataaaa ttcaaaatac     540

atggccgtgt aggagactca ccaatacctg gagctggagc ctatgctgac gatactgcag     600

gggcagccgc agccactggg aatggtgata tattgatgcg cttcctgcca agccgtgtag     660

gagactcacc aatacctgga gctggagcct atgctgacga tactgcaggg gcagccgcag     720

ccactgggaa tggtgatata ttgatgcgct tcctgccaag                           760


<210> 24
<211> 47
<212> PRT
<213> Homo sapiens


<220> 
<223> Protein Sequence to Patient cDNA clones 1, 3, 4, 5: exon 2
      spliced out

<400> 24
Met Ala Arg Lys Ser Asn Leu Pro Val Leu Leu Val Pro Phe Leu Leu 
1               5                   10                  15      
Cys Gln Ala Leu Val Arg Cys Ser Ser Pro Leu Pro Leu Val Val Asn 
            20                  25                  30          
Thr Trp Pro Phe Lys Asn Ala Thr Glu Ala Ala Leu Leu Trp Met 
        35                  40                  45          

<210> 25
<211> 539
<212> DNA
<213> Homo sapiens


<220> 
<223> Patient cDNA clone 2: exons 2 and 3 spliced out

<400> 25
atggcgcgga agtcgaactt gcctgtgctt ctcgtgccgt ttctgctctg ccaggcccta      60

gtgcgctgct ccagccctct gcccctggtc gtcaacactt ggccctttaa gaatgcaacc     120

gaagcagcca ccacatttgc tcaaagtatg gggtttatca atgaagactt atctaccact     180

gcttctcaag ctcttcattc agattggctt gctcggaatt gccagccaaa ttattggagg     240

aatgttatac cagatccctc aaaatactgc ggaccctaca aaccacctgg tatcttaaag     300

caggatattc ctatccataa agaaacagaa gatgatcgtg gtcatgacac tattggcatg     360

gttgtaatcc ataagacagg acatattgct gctggtacat ctacaaatgg tataaaattc     420

aaaatacatg gccgtgtagg agactcacca atacctggag ctggagccta tgctgacgat     480

actgcagggg cagccgcagc cactgggaat ggtgatatat tgatgcgctt cctgccaag      539


<210> 26
<211> 179
<212> PRT
<213> Homo sapiens


<220> 
<223> Protein Sequence to Patient cDNA clone 2: exons 2 and 3 spliced
      out

<400> 26
Met Ala Arg Lys Ser Asn Leu Pro Val Leu Leu Val Pro Phe Leu Leu 
1               5                   10                  15      
Cys Gln Ala Leu Val Arg Cys Ser Ser Pro Leu Pro Leu Val Val Asn 
            20                  25                  30          
Thr Trp Pro Phe Lys Asn Ala Thr Glu Ala Ala Thr Thr Phe Ala Gln 
        35                  40                  45              
Ser Met Gly Phe Ile Asn Glu Asp Leu Ser Thr Thr Ala Ser Gln Ala 
    50                  55                  60                  
Leu His Ser Asp Trp Leu Ala Arg Asn Cys Gln Pro Asn Tyr Trp Arg 
65                  70                  75                  80  
Asn Val Ile Pro Asp Pro Ser Lys Tyr Cys Gly Pro Tyr Lys Pro Pro 
                85                  90                  95      
Gly Ile Leu Lys Gln Asp Ile Pro Ile His Lys Glu Thr Glu Asp Asp 
            100                 105                 110         
Arg Gly His Asp Thr Ile Gly Met Val Val Ile His Lys Thr Gly His 
        115                 120                 125             
Ile Ala Ala Gly Thr Ser Thr Asn Gly Ile Lys Phe Lys Ile His Gly 
    130                 135                 140                 
Arg Val Gly Asp Ser Pro Ile Pro Gly Ala Gly Ala Tyr Ala Asp Asp 
145                 150                 155                 160 
Thr Ala Gly Ala Ala Ala Ala Thr Gly Asn Gly Asp Ile Leu Met Arg 
                165                 170                 175     
Phe Leu Pro 
            

<210> 27
<211> 576
<212> DNA
<213> Homo sapiens


<220> 
<223> Patient cDNA clone 6: exons 2 and 6 spliced out

<400> 27
atggcgcgga agtcgaactt gcctgtgctt ctcgtgccgt ttctgctctg ccaggcccta      60

gtgcgctgct ccagccctct gcccctggtc gtcaacactt ggccctttaa gaatgcaacc     120

gaagcagcac tactatggat gtaggagcag taggagatct cagacgaatt aaaaatgcta     180

ttggtgtggc acggaaagta ctggaacata caacacacac acttttagta ggagagtcag     240

ccaccacatt tgctcaaagt atggggttta tcaatgaaga cttatctacc actgcttctc     300

aagctcttca ttcagattgg cttgctcgga attgccagcc aaattattgg aggaatgtta     360

taccagatcc ctcaaaatac tgcggaccct acaaaccacc tggtatctta aagcaggata     420

ttcctatcca taaagaaaca gaagatgatc gtggtcatga cactattgcc gtgtaggaga     480

ctcaccaata cctggagctg gagcctatgc tgacgatact gcaggggcag ccgcagccac     540

tgggaatggt gatatattga tgcgcttcct gccaag                               576


<210> 28
<211> 47
<212> PRT
<213> Homo sapiens


<220> 
<223> Protein Sequence to Patient cDNA clone 6: exons 2 and 6 spliced
      out

<400> 28
Met Ala Arg Lys Ser Asn Leu Pro Val Leu Leu Val Pro Phe Leu Leu 
1               5                   10                  15      
Cys Gln Ala Leu Val Arg Cys Ser Ser Pro Leu Pro Leu Val Val Asn 
            20                  25                  30          
Thr Trp Pro Phe Lys Asn Ala Thr Glu Ala Ala Leu Leu Trp Met 
        35                  40                  45          

