Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 67-77

  Arndt, Anne Karin ^a,b   Schafer, Sebastian ^c   Drenckhahn, Jorg Detlef ^c   Sabeh, M Khaled ^b   Plovie, Eva R ^b   Caliebe, Almuth ^d   Klopocki, Eva ^e,f   Musso, Gabriel ^b   Werdich, Andreas A ^b   Kalwa, Hermann ^b   Heinig, Matthias ^c,g   Padera, Robert F ^h   Wassilew, Katharina ⁱ   Bluhm, Julia ^c   Harnack, Christine ^c   Martitz, Janine ^c   Barton, Paul J ^j,k   Greutmann, Matthias ^l   Berger, Felix ^e,i   Hubner, Norbert ^c,m   Siebert, Reiner ^d   Kramer, Hans Heiner ^a   Cook, Stuart A ^j,n,o   Macrae, Calum A ^b   Klaassen, Sabine ^c,e   more..

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b HARVARD STEM CELL INSTITUTE   (United States)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY OF KIEL   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁱ DEUTSCHES HERZZENTRUM BERLIN   (Germany)

^j NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^k ROYAL BROMPTON HOSPITAL   (United Kingdom)

^l UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^m DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

ⁿ DEPARTMENT OF CARDIOLOGY   (Singapore)

^o DUKE NUS MEDICAL SCHOOL   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ANIMAL TISSUE; ARTICLE; BROWN ADIPOSE TISSUE; CARDIOMYOPATHY; CELL DIFFERENTIATION; CHROMOSOME DELETION; CHROMOSOME DELETION 1P36; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; GENE; GENE INTERACTION; GENE MAPPING; GENETIC CONSERVATION; HAPLOINSUFFICIENCY; HEART MUSCLE CONTRACTILITY; HEART OUTPUT; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOUSE; MYOCARDIAL DISEASE; NONHUMAN; PHENOTYPE; POINT MUTATION; PRDM16 GENE; PREVALENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; ZEBRA FISH; ZINC FINGER MOTIF;

ANIMALS; CARDIOMYOPATHY, DILATED; CASE-CONTROL STUDIES; CELL PROLIFERATION; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; EXONS; FRAMESHIFT MUTATION; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MUTATION, MISSENSE; MYOCARDIAL CONTRACTION; MYOCYTES, CARDIAC; TRANSCRIPTION FACTORS; ZEBRAFISH;

DANIO RERIO; MURINAE;

EID: 84880268274     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.015     Document Type: Article

References (41)

1. L.G. Shaffer, and J.R. Lupski Molecular mechanisms for constitutional chromosomal rearrangements in humans Annu. Rev. Genet. 34 2000 297 329 (Pubitemid 32065924)
2. S.K. Shapira, C. McCaskill, H. Northrup, A.S. Spikes, F.F. Elder, V.R. Sutton, J.R. Korenberg, F. Greenberg, and L.G. Shaffer Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome Am. J. Hum. Genet. 61 1997 642 650 (Pubitemid 27418406)
3. H.A. Heilstedt, B.C. Ballif, L.A. Howard, R.A. Lewis, S. Stal, C.D. Kashork, C.A. Bacino, S.K. Shapira, and L.G. Shaffer Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome Am. J. Hum. Genet. 72 2003 1200 1212 (Pubitemid 36530007)
4. A. Battaglia, H.E. Hoyme, B. Dallapiccola, E. Zackai, L. Hudgins, D. McDonald-McGinn, N. Bahi-Buisson, C. Romano, C.A. Williams, and L.L. Brailey Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation Pediatrics 121 2008 404 410 (Pubitemid 351198468)
5. R. Jenni, E. Oechslin, J. Schneider, C. Attenhofer Jost, and P.A. Kaufmann Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy Heart 86 2001 666 671 (Pubitemid 33086886)
6. E.M. McNally, J.R. Golbus, and M.J. Puckelwartz Genetic mutations and mechanisms in dilated cardiomyopathy J. Clin. Invest. 123 2013 19 26
7. E. Klopocki, H. Schulze, G. Strauss, C.E. Ott, J. Hall, F. Trotier, S. Fleischhauer, L. Greenhalgh, R.A. Newbury-Ecob, and L.M. Neumann Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Am. J. Hum. Genet. 80 2007 232 240 (Pubitemid 46175672)
8. A. Caliebe, H.Y. Kroes, J.J. van der Smagt, J.I. Martin-Subero, H. Tönnies, R. van 't Slot, R.A. Nievelstein, H. Muhle, U. Stephani, and K. Alfke Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene Eur. J. Med. Genet. 53 2010 179 185
9. H.V. Firth, S.M. Richards, A.P. Bevan, S. Clayton, M. Corpas, D. Rajan, S. Van Vooren, Y. Moreau, R.M. Pettett, and N.P. Carter DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Am. J. Hum. Genet. 84 2009 524 533
10. I. Feenstra, J. Fang, D.A. Koolen, A. Siezen, C. Evans, R.M. Winter, M.M. Lees, M. Riegel, B.B. de Vries, C.M. Van Ravenswaaij, and A. Schinzel European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities Eur. J. Med. Genet. 49 2006 279 291 (Pubitemid 43994552)
11. S. Klaassen, S. Probst, E. Oechslin, B. Gerull, G. Krings, P. Schuler, M. Greutmann, D. Hürlimann, M. Yegitbasi, and L. Pons Mutations in sarcomere protein genes in left ventricular noncompaction Circulation 117 2008 2893 2901 (Pubitemid 351787074)
12. L. Mestroni, B. Maisch, W.J. McKenna, K. Schwartz, P. Charron, C. Rocco, F. Tesson, A. Richter, A. Wilke, M. Komajda Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy Guidelines for the study of familial dilated cardiomyopathies Eur. Heart J. 20 1999 93 102 (Pubitemid 29048080)
13. S. Probst, E. Oechslin, P. Schuler, M. Greutmann, P. Boyé, W. Knirsch, F. Berger, L. Thierfelder, R. Jenni, and S. Klaassen Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype Circ. Cardiovasc. Genet. 4 2011 367 374
14. C. Trapnell, L. Pachter, and S.L. Salzberg TopHat: discovering splice junctions with RNA-Seq Bioinformatics 25 2009 1105 1111
15. P. Flicek, M.R. Amode, D. Barrell, K. Beal, S. Brent, D. Carvalho-Silva, P. Clapham, G. Coates, S. Fairley, and S. Fitzgerald Ensembl 2012 Nucleic Acids Res. 40 Database issue 2012 D84 D90
16. H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin 1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools Bioinformatics 25 2009 2078 2079
17. D.J. Milan, A.C. Giokas, F.C. Serluca, R.T. Peterson, and C.A. MacRae Notch1b and neuregulin are required for specification of central cardiac conduction tissue Development 133 2006 1125 1132
18. A.A. Werdich, A. Brzezinski, D. Jeyaraj, M. Khaled Sabeh, E. Ficker, X. Wan, B.M. McDermott Jr., C.A. Macrae, and D.S. Rosenbaum The zebrafish as a novel animal model to study the molecular mechanisms of mechano-electrical feedback in the heart Prog. Biophys. Mol. Biol. 110 2012 154 165
19. T.J. van Ham, J. Mapes, D. Kokel, and R.T. Peterson Live imaging of apoptotic cells in zebrafish FASEB J. 24 2010 4336 4342
20. C. Colmenares, H.A. Heilstedt, L.G. Shaffer, S. Schwartz, M. Berk, J.C. Murray, and E. Stavnezer Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice Nat. Genet. 30 2002 106 109
21. K. Giannikou, H. Fryssira, V. Oikonomakis, A. Syrmou, K. Kosma, M. Tzetis, S. Kitsiou-Tzeli, and E. Kanavakis Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype Gene 506 2012 360 368
22. J.A. Rosenfeld, J.A. Crolla, S. Tomkins, P. Bader, B. Morrow, J. Gorski, R. Troxell, C. Forster-Gibson, D. Cilliers, and R.G. Hislop Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions Am. J. Med. Genet. A. 152A 2010 1951 1959
23. H.A. Heilstedt, D.L. Burgess, A.E. Anderson, A. Chedrawi, B. Tharp, O. Lee, C.D. Kashork, D.E. Starkey, Y.Q. Wu, and J.L. Noebels Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome Epilepsia 42 2001 1103 1111 (Pubitemid 32947928)
24. M. Gajecka, W. Yu, B.C. Ballif, C.D. Glotzbach, K.A. Bailey, C.A. Shaw, C.D. Kashork, H.A. Heilstedt, D.A. Ansel, and A. Theisen Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure Eur. J. Hum. Genet. 13 2005 139 149 (Pubitemid 40220556)
25. M. Gajecka, S.C. Saitta, A.J. Gentles, L. Campbell, K. Ciprero, E. Geiger, A. Catherwood, J.A. Rosenfeld, T. Shaikh, and L.G. Shaffer Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints Am. J. Med. Genet. A. 152A 2010 3074 3083
26. B.C. Bjork, A. Turbe-Doan, M. Prysak, B.J. Herron, and D.R. Beier Prdm16 is required for normal palatogenesis in mice Hum. Mol. Genet. 19 2010 774 789
27. A.J. Doyle, J.J. Doyle, S.L. Bessling, S. Maragh, M.E. Lindsay, D. Schepers, E. Gillis, G. Mortier, T. Homfray, and K. Sauls Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm Nat. Genet. 44 2012 1249 1254
28. V. Carmignac, J. Thevenon, L. Adès, B. Callewaert, S. Julia, C. Thauvin-Robinet, L. Gueneau, J.B. Courcet, E. Lopez, and K. Holman In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome Am. J. Hum. Genet. 91 2012 950 957
29. M. Bulger, and M. Groudine Functional and mechanistic diversity of distal transcription enhancers Cell 144 2011 327 339
30. R. Redon, M. Rio, S.G. Gregory, R.A. Cooper, H. Fiegler, D. Sanlaville, R. Banerjee, C. Scott, P. Carr, and C. Langford Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J. Med. Genet. 42 2005 166 171 (Pubitemid 40204372)
31. D.J. Kleinjan, and V. van Heyningen Position effect in human genetic disease Hum. Mol. Genet. 7 1998 1611 1618 (Pubitemid 28464038)
32. M. Gajecka, K.L. Mackay, and L.G. Shaffer Monosomy 1p36 deletion syndrome Am. J. Med. Genet. C. Semin. Med. Genet. 145C 2007 346 356 (Pubitemid 350155973)
33. N. Mochizuki, S. Shimizu, T. Nagasawa, H. Tanaka, M. Taniwaki, J. Yokota, and K. Morishita A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)- positive leukemia cells Blood 96 2000 3209 3214
34. P. Seale, B. Bjork, W. Yang, S. Kajimura, S. Chin, S. Kuang, A. Scimè, S. Devarakonda, H.M. Conroe, and H. Erdjument-Bromage PRDM16 controls a brown fat/skeletal muscle switch Nature 454 2008 961 967
35. E. Kinameri, T. Inoue, J. Aruga, I. Imayoshi, R. Kageyama, T. Shimogori, and A.W. Moore Prdm proto-oncogene transcription factor family expression and interaction with the Notch-Hes pathway in mouse neurogenesis PLoS ONE 3 2008 e3859
36. S. Kajimura, P. Seale, K. Kubota, E. Lunsford, J.V. Frangioni, S.P. Gygi, and B.M. Spiegelman Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex Nature 460 2009 1154 1158
37. D. Panáková, A.A. Werdich, and C.A. Macrae Wnt11 patterns a myocardial electrical gradient through regulation of the L-type Ca(2+) channel Nature 466 2010 874 878
38. B. Gerull, A. Heuser, T. Wichter, M. Paul, C.T. Basson, D.A. McDermott, B.B. Lerman, S.M. Markowitz, P.T. Ellinor, and C.A. MacRae Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat. Genet. 36 2004 1162 1164 (Pubitemid 41288964)
39. R. Lombardi, M. da Graca Cabreira-Hansen, A. Bell, R.R. Fromm, J.T. Willerson, and A.J. Marian Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ. Res. 109 2011 1342 1353
40. P. Boström, N. Mann, J. Wu, P.A. Quintero, E.R. Plovie, D. Panáková, R.K. Gupta, C. Xiao, C.A. MacRae, A. Rosenzweig, and B.M. Spiegelman C/EBPβ controls exercise-induced cardiac growth and protects against pathological cardiac remodeling Cell 143 2010 1072 1083
41. I. Pinheiro, R. Margueron, N. Shukeir, M. Eisold, C. Fritzsch, F.M. Richter, G. Mittler, C. Genoud, S. Goyama, and M. Kurokawa Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity Cell 150 2012 948 960