LOCUS       AY357727                2257 bp    mRNA    linear   HUM 31-DEC-2003
DEFINITION  Homo sapiens progerin mRNA, complete cds.
ACCESSION   AY357727
VERSION     AY357727.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2257)
  AUTHORS   Csoka,A.B.
  TITLE     The progerin allele of lamin A disrupts chromatin organization
  JOURNAL   Unpublished
REFERENCE   2  (bases 1 to 2257)
  AUTHORS   Csoka,A.B.
  TITLE     Direct Submission
  JOURNAL   Submitted (31-JUL-2003) OB-GYN and Reproductive Sciences,
            University of Pittsburgh, 204 Craft Avenue, Pittsburgh, PA 15213,
            USA
FEATURES             Location/Qualifiers
     source          1..2257
                     /db_xref="H-InvDB:HIT000252121"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     CDS             198..2042
                     /note="nuclear lamin A protein variant; usually only found
                     in patients affected with Hutchinson-Gilford Progeria
                     Syndrome"
                     /codon_start=1
                     /product="progerin"
                     /protein_id="AAR29466.1"
                     /translation="METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAV
                     YIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARL
                     QLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
                     ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRET
                     KRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQ
                     SAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTS
                     RRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPS
                     PTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGK
                     FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP
                     PTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHH
                     GSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQSPQNCSIM"
BASE COUNT          508 a          674 c          730 g          345 t
ORIGIN      
        1 gagcgccgca cctacaccag ccaacccaga tcccgaggtc cgacagcgcc cggcccagat
       61 ccccacgcct gccaggagca agccgagagc cagccggccg gcgcactccg actccgagca
      121 gtctctgtcc ttcgacccga gccccgcgcc ctttccggga cccctgcccc gcgggcagcg
      181 ctgccaacct gccggccatg gagaccccgt cccagcggcg cgccacccgc agcggggcgc
      241 aggccagctc cactccgctg tcgcccaccc gcatcacccg gctgcaggag aaggaggacc
      301 tgcaggagct caatgatcgc ttggcggtct acatcgaccg tgtgcgctcg ctggaaacgg
      361 agaacgcagg gctgcgcctt cgcatcaccg agtctgaaga ggtggtcagc cgcgaggtgt
      421 ccggcatcaa ggccgcctac gaggccgagc tcggggatgc ccgcaagacc cttgactcag
      481 tagccaagga gcgcgcccgc ctgcagctgg agctgagcaa agtgcgtgag gagtttaagg
      541 agctgaaagc gcgcaatacc aagaaggagg gtgacctgat agctgctcag gctcggctga
      601 aggacctgga ggctctgctg aactccaagg aggccgcact gagcactgct ctcagtgaga
      661 agcgcacgct ggagggcgag ctgcatgatc tgcggggcca ggtggccaag cttgaggcag
      721 ccctaggtga ggccaagaag caacttcagg atgagatgct gcggcgggtg gatgctgaga
      781 acaggctgca gaccatgaag gaggaactgg acttccagaa gaacatctac agtgaggagc
      841 tgcgtgagac caagcgccgt catgagaccc gactggtgga gattgacaat gggaagcagc
      901 gtgagtttga gagccggctg gcggatgcgc tgcaggaact gcgggcccag catgaggacc
      961 aggtggagca gtataagaag gagctggaga agacttattc tgccaagctg gacaatgcca
     1021 ggcagtctgc tgagaggaac agcaacctgg tgggggctgc ccacgaggag ctgcagcagt
     1081 cgcgcatccg catcgacagc ctctctgccc agctcagcca gctccagaag cagctggcag
     1141 ccaaggaggc gaagcttcga gacctggagg actcactggc ccgtgagcgg gacaccagcc
     1201 ggcggctgct ggcggaaaag gagcgggaga tggccgagat gcgggcaagg atgcagcagc
     1261 agctggacga gtaccaggag cttctggaca tcaagctggc cctggacatg gagatccacg
     1321 cctaccgcaa gctcttggag ggcgaggagg agaggctacg cctgtccccc agccctacct
     1381 cgcagcgcag ccgtggccgt gcttcctctc actcatccca gacacagggt gggggcagcg
     1441 tcaccaaaaa gcgcaaactg gagtccactg agagccgcag cagcttctca cagcacgcac
     1501 gcactagcgg gcgcgtggcc gtggaggagg tggatgagga gggcaagttt gtccggctgc
     1561 gcaacaagtc caatgaggac cagtccatgg gcaattggca gatcaagcgc cagaatggag
     1621 atgatccctt gctgacttac cggttcccac caaagttcac cctgaaggct gggcaggtgg
     1681 tgacgatctg ggctgcagga gctggggcca cccacagccc ccctaccgac ctggtgtgga
     1741 aggcacagaa cacctggggc tgcgggaaca gcctgcgtac ggctctcatc aactccactg
     1801 gggaagaagt ggccatgcgc aagctggtgc gctcagtgac tgtggttgag gacgacgagg
     1861 atgaggatgg agatgacctg ctccatcacc accacggctc ccactgcagc agctcggggg
     1921 accccgctga gtacaacctg cgctcgcgca ccgtgctgtg cgggacctgc gggcagcctg
     1981 ccgacaaggc atctgccagc ggctcaggag cccagagccc ccagaactgc agcatcatgt
     2041 aatctgggac ctgccaggca ggggtggggg tggaggcttc ctgcgtcctc ctcacctcat
     2101 gcccaccccc tgccctgcac gtcatgggag ggggcttgaa gccaaagaaa aataaccctt
     2161 tggttttttt cttctgtatt tttttttcta agagaagtta ttttctacag tggttttata
     2221 ctgaaggaaa aacacaagca aaaaaaaaaa aaaaaaa
//