Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks

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• 作者：Xiaoli Chen (1)
  Jun Wang (2)
  Elyse Mitchell (3)
  Jin Guo (1)
  Liwen Wang (2)
  Yu Zhang (1)
  Jennelle C Hodge (3) (4)
  Yiping Shen (5) (6) (7)
  
  1. Beijing Municipal Key Laboratory of Child Development and Nutriomics ; Capital Institute of Pediatrics ; Beijing ; China
  2. Department of Neurology ; Affiliated Children鈥檚 Hospital of Capital Institute of Pediatrics ; Beijing ; China
  3. Department of Laboratory Medicine and Pathology ; Mayo Clinic ; Rochester ; MN ; USA
  4. Department of Pathology and Laboratory Medicine ; Cedars-Sinai Medical Center ; Los Angeles ; CA ; USA
  5. Shanghai Children鈥檚 Medical Center ; Shanghai Jiaotong University School of Medicine ; Shanghai ; China
  6. Department of Pathology ; Harvard Medical School ; Boston ; MA ; USA
  7. Department of Laboratory Medicine ; Children鈥檚 Hospital Boston ; Boston ; MA ; USA
  
• 关键词：De novo 8q13.2 ; 13.3 microdeletion ; Human endogenous retroviral (HERV) sequences ; Branchio ; oto ; renal syndrome ; Mesomelia ; synostoses syndrome
• 刊名：BMC Medical Genetics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：1,637 KB
• 参考文献：1. Bailey, JA, Eichler, EE (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7: pp. 552-564 CrossRef
  2. Stankiewicz, P, Lupski, JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18: pp. 74-82 CrossRef
  3. Lupski, JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: pp. 417-422 CrossRef
  4. Rudd, MK, Keene, J, Bunke, B, Kaminsky, EB, Adam, MP, Mulle, JG, Ledbetter, DH, Martin, CL (2009) Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet 18: pp. 2957-2962 CrossRef
  5. Batzer, MA, Deininger, PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3: pp. 370-379 CrossRef
  6. Deininger, PL, Moran, JV, Batzer, MA, Kazazian, HH (2003) Mobile elements and mammalian genome evolution. Curr Opin Genet Dev 13: pp. 651-658 13" target="_blank" title="It opens in new window">CrossRef
  7. Hughes, JF, Coffin, JM (2001) Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution. Nat Genet 29: pp. 487-489 CrossRef
  8. Blanco, P, Shlumukova, M, Sargent, CA, Jobling, MA, Affara, N, Hurles, ME (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37: pp. 752-758 136/jmg.37.10.752" target="_blank" title="It opens in new window">CrossRef
  9. Sun, C, Skaletsky, H, Rozen, S, Gromoll, J, Nieschlag, E, Oates, R, Page, DC (2000) Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9: pp. 2291-2296 CrossRef
  10. Hermetz, KE, Surti, U, Cody, JD, Rudd, MK (2012) A recurrent translocation is mediated by homologous recombination between HERV-H elements. Mol Cytogenet 5: pp. 6 CrossRef
  11. Kochhar, A, Fischer, SM, Kimberling, WJ, Smith, RJ (2007) Branchio-oto-renal syndrome. Am J Med Genet A 143A: pp. 1671-1678 CrossRef
  12. Fraser, FC, Sproule, JR, Halal, F (1980) Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7: pp. 341-349 1320070316" target="_blank" title="It opens in new window">CrossRef
  13. Lindau, TA, Cardoso, ACV, Rossi, NF, G, CM (2014) Anatomical changes and audiological profile in Branchio-oto-renal syndrome: a literature review. Int Arch Otorhinolaryngol 18: pp. 68-76 1358659" target="_blank" title="It opens in new window">CrossRef
  14. Estefania, E, Ramirez-Camacho, R, Gomar, M, Trinidad, A, Arellano, B, Garcia-Berrocal, JR, Verdaguer, JM, Vilches, C (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet 70: pp. 140-144 CrossRef
  15. Abdelhak, S, Kalatzis, V, Heilig, R, Compain, S, Samson, D, Vincent, C, Weil, D, Cruaud, C, Sahly, I, Leibovici, M, Bitner-Glindzicz, M, Francis, M, Lacombe, D, Vigneron, J, Charachon, R, Boven, K, Bedbeder, P, Regemorter, N, Weissenbach, J, Petit, C (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15: pp. 157-164 CrossRef
  16. Chang, EH, Menezes, M, Meyer, NC, Cucci, RA, Vervoort, VS, Schwartz, CE, Smith, RJ (2004) Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 23: pp. 582-589 CrossRef
  17. Orten, DJ, Fischer, SM, Sorensen, JL, Radhakrishna, U, Cremers, CW, Marres, HA, Camp, G, Welch, KO, Smith, RJ, Kimberling, WJ (2008) Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 29: pp. 537-544 CrossRef
  18. Abdelhak, S, Kalatzis, V, Heilig, R, Compain, S, Samson, D, Vincent, C, Levi-Acobas, F, Cruaud, C, Merrer, M, Mathieu, M, K枚nig, R, Vigneron, J, Weissenbach, J, Petit, C, Weil, D (1997) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6: pp. 2247-2255 13.2247" target="_blank" title="It opens in new window">CrossRef
  19. Vervoort, VS, Smith, RJ, O'Brien, J, Schroer, R, Abbott, A, Stevenson, RE, Schwartz, CE (2002) Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 10: pp. 757-766 CrossRef
  20. Gu, JZ, Wagner, MJ, Haan, EA, Wells, DE (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene. Genomics 31: pp. 201-206 CrossRef
  21. Krug, P, Moriniere, V, Marlin, S, Koubi, V, Gabriel, HD, Colin, E, Bonneau, D, Salomon, R, Antignac, C, Heidet, L (2011) Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat 32: pp. 183-190 CrossRef
  22. Sanchez-Valle, A, Wang, X, Potocki, L, Xia, Z, Kang, SH, Carlin, ME, Michel, D, Williams, P, Cabrera-Meza, G, Brundage, EK, Eifert, AL, Stankiewicz, P, Cheung, SW, Lalani, SR (2010) HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A 152A: pp. 2854-2860 CrossRef
  23. Paces, J, Pavlicek, A, Zika, R, Kapitonov, VV, Jurka, J, Paces, V (2004) HERVd: the Human Endogenous RetroViruses Database: update. Nucleic Acids Res 32: pp. D50 CrossRef
  24. Jern, P, Coffin, JM (2008) Effects of retroviruses on host genome function. Annu Rev Genet 42: pp. 709-732 CrossRef
  25. Salm, MP, Horswell, SD, Hutchison, CE, Speedy, HE, Yang, X, Liang, L, Schadt, EE, Cookson, WO, Wierzbicki, AS, Naoumova, RP, Shoulders, CC (2012) The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res 22: pp. 1144-1153 CrossRef
  26. Brophy, PD, Alasti, F, Darbro, BW, Clarke, J, Nishimura, C, Cobb, B, Smith, RJ, Manak, JR (2013) Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet 132: pp. 1339-1350 13-1338-8" target="_blank" title="It opens in new window">CrossRef
  27. Shuvarikov, A, Campbell, IM, Dittwald, P, Neill, NJ, Bialer, MG, Moore, C, Wheeler, PG, Wallace, SE, Hannibal, MC, Murray, MF, Giovanni, MA, Terespolsky, D, Sodhi, S, Cassina, M, Viskochil, D, Moghaddam, B, Herman, K, Brown, CW, Beck, CR, Gambin, A, Cheung, SW, Patel, A, Lamb, AN, Shaffer, LG, Ellison, JW, Ravnan, JB, Stankiewicz, P, Rosenfeld, JA (2013) Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays. Hum Mutat 34: pp. 1415-1423 CrossRef
  28. Sanggaard, KM, Rendtorff, ND, Kjaer, KW, Eiberg, H, Johnsen, T, Gimsing, S, Dyrmose, J, Nielsen, KO, Lage, K, Tranebjaerg, L (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 15: pp. 1121-1131 CrossRef
  29. Isidor, B, Pichon, O, Redon, R, Day-Salvatore, D, Hamel, A, Siwicka, KA, Bitner-Glindzicz, M, Heymann, D, Kjellen, L, Kraus, C, Leroy, JG, Mortier, GR, Rauch, A, Verloes, A, David, A, Caignec, C (2010) Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet 87: pp. 95-100 CrossRef
  30. Verloes, A, David, A (1995) Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. Am J Med Genet 55: pp. 205-212 1320550211" target="_blank" title="It opens in new window">CrossRef
  31. Pfeiffer, RA, Hirschfelder, H, Rott, HD (1995) Specific acromesomelia with facial and renal anomalies: a new syndrome. Clin Dysmorphol 4: pp. 38-43
  32. Leroy, JG, Claus, L, Lee, B, Mortier, GR (2003) Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. Pediatr Pathol Mol Med 22: pp. 23-35 CrossRef
  
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

Background Human endogenous retroviral (HERV) sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV sequences make them ideal substrates for genomic rearrangements. A role for HERV sequences in mediating human disease-associated rearrangement has been reported but is likely currently underappreciated. Methods and Results In the present study, two independent de novo 8q13.2-13.3 microdeletion events were identified in patients with clinical features of Branchio-Oto-Renal (BOR) syndrome. Nucleotide-level mapping demonstrated the identical breakpoints, suggesting a recurrent microdeletion including multiple genes such as EYA1, SULF1, and SLCO5A1, which is mediated by HERV1 homologous sequences. Conclusions These findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.