Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma.
作者： Elaine R. Levy , Sharon W. Horsley , Anthony P. Monaco , Elisabeth Steichen-Gersdorf , Vladimir Zajac
DOI: 10.1007/BF03405879
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摘要: An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic hypopigmented lesions, psychomotor retardation, and choroid plexus papilloma. A YAC clone containing the locus DXS1 from Xq12 found by fluorescence situ hybridisation to cross breakpoint. Cosmid clones positive for were used identify junction fragment patient’s DNA. chromosome- 17-specific DNA isolated cosmid crossing chromosome 17p13. Exon trapping identified two known genes 17: FMR1L2 (the fragile X mental retardation syndrome like protein 2) SHBG (human sex hormone-binding globulin). Mapping showed that neither gene disrupted translocation.
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sci-hub.st 参考文章(21)
M.C. Siomi, H. Siomi, W.H. Sauer, S. Srinivasan, R.L. Nussbaum, G. Dreyfuss, FXR1, an autosomal homolog of the fragile X mental retardation gene The EMBO Journal. ,vol. 14, pp. 2401- 2408 ,(1995) , 10.1002/J.1460-2075.1995.TB07237.X
Y. Zhang, J. P. O'Connor, M. C. Siomi, S. Srinivasan, A. Dutra, R. L. Nussbaum, G. Dreyfuss, The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. The EMBO Journal. ,vol. 14, pp. 5358- 5366 ,(1995) , 10.1002/J.1460-2075.1995.TB00220.X
Michele Makos Wales, Margaret A. Biel, Wafik El Deiry, Barry D. Nelkin, Jean-Pierre Issa, Webster K. Cavenee, Steven J. Kuerbitz, Stephen B. Baylin, p53 activates expression of HIC-1, a new candidate tumour suppressor gene on 17p13.3. Nature Medicine. ,vol. 1, pp. 570- 577 ,(1995) , 10.1038/NM0695-570
Geoffrey L. Hammond, D. Alan Underbill, Harriet M. Rykse, Carolyn L. Smith, The human sex hormone-binding globulin gene contains exons for androgen-binding protein and two other testicular messenger RNAs. Molecular Endocrinology. ,vol. 3, pp. 1869- 1876 ,(1989) , 10.1210/MEND-3-11-1869
Virginia P. Sybert, Roberta A. Pagon, Michael Donlan, Cynthia M. Bradley, Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito The Journal of Pediatrics. ,vol. 116, pp. 581- 586 ,(1990) , 10.1016/S0022-3476(05)81606-3
A Sefiani, L Abel, S Heuertz, D Sinnett, L Lavergne, D Labuda, MC Hors-Cayla, None, The gene for incontinentia pigmenti is assigned to Xq28 Genomics. ,vol. 4, pp. 427- 429 ,(1989) , 10.1016/0888-7543(89)90350-9
K.K. Wilgenbus, J.F. Coy, A. Mincheva, H. Nicolai, E. Solomon, P. Lichter, A. Poustka, Ordering of 66 STSs along the entire short arm of human chromosome 17 and chromosome assignment of a transcribed sequence (FMR1L2) homologous to FMR1 Cytogenetic and Genome Research. ,vol. 73, pp. 240- 243 ,(1996) , 10.1159/000134347
Deanna M. Church, Christy J. Stotler, Joni L. Rutter, Jill R. Murrell, James A. Trofatter, Alan J. Buckler, Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genetics. ,vol. 6, pp. 98- 105 ,(1994) , 10.1038/NG0194-98
Célia P. Koiffmann, Deise H. de Souza, Aron Diament, Heloisa B. Ventura, Rosana S. Alves, Sonia Kihara, Anita Wajntal, Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. American Journal of Medical Genetics. ,vol. 46, pp. 529- 533 ,(1993) , 10.1002/AJMG.1320460514
Linda A. Cannizzaro, Frederick Hecht, Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation. Clinical Genetics. ,vol. 32, pp. 66- 69 ,(2008) , 10.1111/J.1399-0004.1987.TB03326.X