Estrtura do gene ATRX

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[pic 2]Imagem 1.2: Regiões intrônicas e exônicas do gene ATRX. Fonte: Ensembl. Disponível em: http://www.ensembl.org/Homo_sapiens/Transcript/Summary?db=core;g=ENSG00000085224;r=X:77504878-77786269;t=ENST00000373344

Os 24 transcritos do gene ATRX possuem um número variado de éxons, por exemplo: (transcrito ATRX-001) possui 35 éxons, (transcrito ATX-002) apresenta 34 éxons, (transcrito ATRX-0010) possui 14 éxons, (transcritos ATRX-007/ATRX-0012) possuem 5 éxons. Sendo os 14 primeiros transcritos codificadores de proteínas. O primeiro éxon do gene ATRX está entre as bases 77.786.269 e 77.785.982, e o segundo éxon, entre as bases 77.717.243 e 77.717.131. Apresenta a região UTR 5’ (Untranslated Region 5’), indicada na Imagem 1.3 pelos retângulos em vermelho. A região UTR 3’, indicada na Imagem 1.4, é consideravelmente mais extensa do que a região UTR 5’ (final do éxon 35). Essas regiões são transcritas em RNAm.

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Legenda paras as figuras de bases[16].[pic 4]Imagem 1.3: Região UTR 5’ do gene ATRX, indicada em vermelho. O conjunto de todas as bases da imagem forma o éxon 1 deste gene.[16]

TTNATCAGCTGTGTTCAGNGAATACNTANGAACAGAAGGCTNCAGCAGCAGTANANTCAG

CAGCAACAGCAACAAATGACTTATCAACAAGCAACACTGGGTCACNTCATGATGCNAAAN

CCCCCNNATTTGNTNATGAATCCTTCTANCTACCAGCAGATTGATNNGAGAGGAATGTNT

CAGCCAGTGGCTNNNNGNNNNNAGCNACCACCATTACAGCNTGCACCACCCNCANTGANA

AGCAAAAATCCAGNACCTTCCCAAGNGAAATCANTGTGATTTNNCACTAAANGCTTAATG

GATTNTTNAAATCANAGAAAGATCTTTTNTNTNTTTAGGAATCAATGACTTAACAGAACT

CAACTGTATAAATAGTTTGGTCCCCTTAAANGCCAATCTTCCATATTAGTTTTACTTTTT

TTTTTTTNANATAGGGCATACCATTTCTTCCTGACATTTGTCAGTNANGTTGCCTAGAAT

CTTCTTACACANGCTGAGTACAGAAGATATTTCAAATTGTTTTCAGTGAAAACAAGTCCT

TCCATAATAGTAACAACTCCACAGATTTCCTCTCTAAATTTTTATGNCTGCTTTTAGCAA

CCATAAAATTGTCANAAAATTAATAAATTTAGGAAAGAATAAAGATNTATATATTCATTC

TTTACATATAAAAACACACAGCTGAGTTCTTAGAGTTGATTCCTCAAGTTATGAAATACT

TTTGTACTTAATCCATTTCTTGATTAAAGTGATTGAAATGGTTTTAATGTTCTTTTGACT

GAAGTCTGAAACTGGGCTCCTGCTTTATTGTCTCTGTGNCTGAAAGTTAGAAACTGAGGG

TTATCTTTGACACAGAATTGTGTGCAATATTCTTAAATACTACTGCTCTAAAAGTTGGAG

AAGNCTTGCAGTTNTCTTAGCATTGTATAAACAGCCTTAAGTATAGCNTAAGAAGAGAAT

TCCTTTTTCTTCTTTAGTCCTTCTGCCATTTTTTATTTTCAGTTANATGTGCTGAAATAA

TTACTGGTAAAATTTCAGGGTTGTGGATTATCTTCCACACATGAATTTTCTCTCTCCTGG

CACGAATATAAAGCACATCTCTTAACTGCATGGTGCCAGTGCTAATGCTTCATCCTGTTG

CTGGCAGTGGGATGTGGACTTAGAAAATCAAGTTCTAGCATTTNAGNAGGTTAACACTGA

AGTTGTGGTTGTTAGGTTCACACCCTGTTTTATAAACAACATCAAAATGGCAGAACCATT

GCTGACTTTAGGTTCACATGAGGANTGTACTTTTAACAATTCNCAGTACTNTCAGTATTG

TGAAATAATTCCTCTGAAAGATAAGAATCACTGGCTTNTATGNGCTTCTTTTCTCTCATC

ATCATGTTCTNTTACCCCAGTTTCCTTACATTTTTTTAAATTGTTTCAGAGTTTGTTTTT

TTTTTAGTTTAGATTGTGAGGCAATTATTAAATCAAAATTAATTCATCCAATANCCCTTT

ACTAGAAGTTTTACTAGAANATGTATTACATTTTATTTTTTCTTAATCCAGTTCTGCAAA

AATGACCTATAAATTTATTCATGTACAANTTTGGTTACTTGAATTGTTAAAGAAAACATT

GTTTTTGACTATGGGAGTCAACTCAACANGGCAGAACCATTTTTGAGATGATGATACANC

AGGTAGTGAANCAGCTTAAGAATTCCAAAAAAAAAAAAAAAAAAAAAAAAANNAAANCTG

GGTTTGGGCTTTGCTTTAGGTATCACTGGATTAGAATGAGTTTAACATTAGCTAAAANTG

CTTTGAGTTGTTTNGATGATTAAGAGATTGCCATTTTTATCTTGGAAGAACTAGTGGTAA

AACATCCAAGAGCACTAGGATTGTGATACAGAATTTGTGAGGTTTGGTGGATCCACNCCC

CTNTCCCCCACTTTCCCATGATGAAATATCACTAATAAATCCTGTATATTTAGATATTAT

GCTAGCCATGTAATCAGATTTATTTAATTGNGTGGGGCAGGTGTGTATTTACTTTAGAAA

AAATGAAAAAGNCAAGATTTATGAGAAATATTTGAAGGCAGTACACTCTGGCCAACTGTT

ACCAGTTGGTATTTCTACAAGTTCAGAATATTTTAAACCTGATTTACTAGNCCTGGGAAT

TTTCANCNTGGTCTAATTATTTANTCAAAGACATAGATGTGAAAATTTTAGGCAACCTTC

TAAATCTTTTTCACCATGGATGAAACTATAACTTAAAGAATAATACTTAGANGGGTTAAT

TGGAAATCAGAGTTTGAAATAAAACTTGGACCACTTTGTATACACTCTTCTCACTTGACA

TTTTAGCTATATANTATGTACTTTGAGTATAACATCAAGCTTTAACAAATATTTAAAGAC

AAAAAAATCANGTCAGTAAAATACTAAAAGGCTCATTTTTATATTTGTTTTAGATGTTTT

AAATAGTTGCAATGGNTTAAAAATGATGATTTAAAATGTTGCTTGTAATACAGTTTTGCC

TGCTAAATTCTCCACATTTTGTAACCTGTTTTATTTCTTTGGGTGTAAAGCGTTTTTGCT

TAGTANTGTGATATTGTATATGTTTTGTCCCAGTTGTATAGTAATGTTTCAGTCCATCAT

CCAGCTTTGGCTGCTGAAATCATACAGCTGTGAAGACTTGCCTTTGTTTCTGTTAGACTG

CTTTTCAGTTCTGTATTGAGTATCTTAAGTACTNTAGAAAAGATGTCACTTCTTCCTTTA

AGGCTGTTTTGTAATATATATAAGGACTGGAATTGTGTTTTNAAAGAAAAGCATTCAAGT

ATGACAATATACTATCTGTGTTTTCACCATTCAAAGTGCTGTTTAGTAGTTGAAACTTAA

ACTATTTAATGTCATTTAATAAAGTGACCAAAATGTGTTGTNCTCTTNATTGTATTTTCA

CAGCTTTGAAAATCTGTGCACATACTGTTTCATAGAAAATGTATAGCTTTTGTTGTCCTA

TATAATGGTGGTTCTTTTGCACATTTAGTTNTTTAATATTGAGAGGTCANNAAGTTTGGT

TATTGAATCTGTTATATACTAAATTCTGTAAAGGGAGATCTCTCATCTCAAAAAGAATTT

ACATACCAGGAAGTCCANGTGTGTTTGTGTTAGTTTTGGATGTCTTTGTGTAATCCAGCC

CCNTTTCCTGTTTCCCAACAGCTGTAACACTCATTTTAAGTCAAGCAGGGCTANCAACCC

ACACTTGATAGAAAAGCTGCNTACCATTCAGAAGCTTCCTTATTACCTGGCCTCCAAATG