دورية أكاديمية
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
| العنوان: | Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing |
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| المؤلفون: | Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven |
| المساهمون: | Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S. |
| المصدر: | Regev via Courtney Crummett |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2012 |
| المجموعة: | DSpace@MIT (Massachusetts Institute of Technology) |
| الوصف: | Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (~1.5–5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing. ; National Institutes of Health (U.S.) (Intramural Research Program) ; National Human Genome Research Institute (U.S.) ; Charles University (program UNCE 204011) ; Charles University (program PRVOUK-P24/LF1/3) ; Czech Republic. Ministry of Education, Youth, and Sports (grant NT13116-4/2012) ; Czech Republic. Ministry of Health (grant NT13116-4/2012) ; Czech Republic. Ministry of Health (grant LH12015) ; National Institutes of Health (U.S.) (Harvard Digestive Diseases Center, grant DK34854) |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1061-4036 1546-1718 |
| العلاقة: | http://dx.doi.org/10.1038/ng.2543Test; Nature Genetics; http://hdl.handle.net/1721.1/80712Test; Kirby, Andrew, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, et al. “Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature Genetics 45, no. 3 (February 10, 2013): 299-303.; orcid:0000-0001-8567-2049 |
| الإتاحة: | https://doi.org/10.1038/ng.2543Test http://hdl.handle.net/1721.1/80712Test |
| حقوق: | Creative Commons Attribution-Noncommercial-Share Alike 3.0 ; http://creativecommons.org/licenses/by-nc-sa/3.0Test/ |
| رقم الانضمام: | edsbas.1DDA5E49 |
| قاعدة البيانات: | BASE |
| تدمد: | 10614036 15461718 |
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