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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003935naa a2200781 4500
001oai:DiVA.org:uu-197647
003SwePub
008130402s2013 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1976472 URI
0247 a https://doi.org/10.1038/ng.25432 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Kirby, Andrew4 aut
2451 0a Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
264 c 2013-02-10
264 1b Springer Science and Business Media LLC,c 2013
338 a print2 rdacarrier
520 a 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 (similar to 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.
7001 a Gnirke, Andreas4 aut
7001 a Jaffe, David B.4 aut
7001 a Baresova, Veronika4 aut
7001 a Pochet, Nathalie4 aut
7001 a Blumenstiel, Brendan4 aut
7001 a Ye, Chun4 aut
7001 a Aird, Daniel4 aut
7001 a Stevens, Christine4 aut
7001 a Robinson, James T.4 aut
7001 a Cabili, Moran N.4 aut
7001 a Gat-Viks, Irit4 aut
7001 a Kelliher, Edward4 aut
7001 a Daza, Riza4 aut
7001 a DeFelice, Matthew4 aut
7001 a Hulkova, Helena4 aut
7001 a Sovova, Jana4 aut
7001 a Vylet'al, Petr4 aut
7001 a Antignac, Corinne4 aut
7001 a Guttman, Mitchell4 aut
7001 a Handsaker, Robert E.4 aut
7001 a Perrin, Danielle4 aut
7001 a Steelman, Scott4 aut
7001 a Sigurdsson, Snaevar4 aut
7001 a Scheinman, Steven J.4 aut
7001 a Sougnez, Carrie4 aut
7001 a Cibulskis, Kristian4 aut
7001 a Parkin, Melissa4 aut
7001 a Green, Todd4 aut
7001 a Rossin, Elizabeth4 aut
7001 a Zody, Michael C.4 aut
7001 a Xavier, Ramnik J.4 aut
7001 a Pollak, Martin R.4 aut
7001 a Alper, Seth L.4 aut
7001 a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)kerli865
7001 a Gabriel, Stacey4 aut
7001 a Hart, P. Suzanne4 aut
7001 a Regev, Aviv4 aut
7001 a Nusbaum, Chad4 aut
7001 a Kmoch, Stanislav4 aut
7001 a Bleyer, Anthony J.4 aut
7001 a Lander, Eric S.4 aut
7001 a Daly, Mark J.4 aut
7102 a Uppsala universitetb Institutionen för medicinsk biokemi och mikrobiologi4 org
7730 t Nature Geneticsd : Springer Science and Business Media LLCg 45:3, s. 299-303q 45:3<299-303x 1061-4036x 1546-1718
8564 u https://biblio.ugent.be/publication/4294558/file/4294604.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-197647
8564 8u https://doi.org/10.1038/ng.2543

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