Identification and characterization of DSPIa, a novel isoform of human desmoplakin

Cell and Tissue Research

Volumn 341, Issue 1, 2010, Pages 121-129

  Cabral, Rita M ^a   Wan, Hong ^a   Cole, Clare L ^b   Abrams, Dominic J ^c   Kelsell, David P ^a   South, Andrew P ^a,b  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

Desmoplakin; Desmosome; Human; Isoform; Quantitative polymerase chain reaction; Splice site

Indexed keywords

AMINO ACID; DESMOPLAKIN; DESMOPLAKIN I; DESMOPLAKIN IA; DESMOPLAKIN II; ISOPROTEIN; MESSENGER RNA; RECOMBINANT PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; RNA SPLICING;

ALPHA HELIX; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DESMOSOME; HEART MUSCLE CELL; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; TISSUE DISTRIBUTION; CYTOLOGY; EPIDERMIS; EXPRESSED SEQUENCE TAG; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE SILENCING; GENETICS; HEART MUSCLE; KERATINOCYTE; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PROSTATE TUMOR; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE HOMOLOGY; TUMOR CELL LINE;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELL LINE, TUMOR; DESMOPLAKINS; DNA, COMPLEMENTARY; EPIDERMIS; EXPRESSED SEQUENCE TAGS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; HUMANS; KERATINOCYTES; MALE; MOLECULAR SEQUENCE DATA; MYOCARDIUM; PROSTATIC NEOPLASMS; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, SMALL INTERFERING; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 77954385727     PISSN: 0302766X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00441-010-0989-1     Document Type: Article

References (50)

1. SF Altschul TL Madden AA Schaffer J Zhang Z Zhang W Miller DJ Lipman 1997 Gapped BLAST and PSI-BLAST: a new generation of protein database search programs Nucleic Acids Res 25 3389 3402 10.1093/nar/25.17.3389 1:CAS:528:DyaK2sXlvFyhu7w%3D 9254694 (Pubitemid 27359211)
2. BD Angst LA Nilles KJ Green 1990 Desmoplakin II expression is not restricted to stratified epithelia J Cell Sci 97 247 257 1:CAS:528: DyaK3MXhtFyquro%3D 2277092
3. DK Armstrong KE McKenna PE Purkis KJ Green RA Eady IM Leigh AE Hughes 1999 Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma Hum Mol Genet 8 143 148 10.1093/hmg/8.1.143 1:STN:280: DyaK1M7gsF2hug%3D%3D 9887343 (Pubitemid 29039060)
4. A Asimaki P Syrris D Ward LG Guereta JE Saffitz WJ McKenna 2009 Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations J Cutan Pathol 36 553 559 10.1111/j.1600-0560. 2008.01112.x 19178614
5. G Ast 2004 How did alternative splicing evolve? Nat Rev Genet 5 773 782 10.1038/nrg1451 1:CAS:528:DC%2BD2cXot1Kju7w%3D 15510168 (Pubitemid 39336361)
6. MS Boguski TM Lowe CM Tolstoshev 1993 dbEST-database for "expressed sequence tags" Nat Genet 4 332 333 10.1038/ng0893-332 1:CAS:528: DyaK3sXltlaktL4%3D 8401577 (Pubitemid 23231478)
7. MC Bolling MF Jonkman 2009 Skin and heart: une liaison dangereuse Exp Dermatol 18 658 668 10.1111/j.1600-0625.2009.00908.x 1:CAS:528: DC%2BD1MXhtVKnsbrJ 19558499
8. EA Bornslaeger CM Corcoran TS Stappenbeck KJ Green 1996 Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly J Cell Biol 134 985 1001 10.1083/jcb.134.4.985 1:CAS:528:DyaK28XltFGrtLY%3D 8769422
9. EA Bornslaeger LM Godsel CM Corcoran JK Park M Hatzfeld AP Kowalczyk KJ Green 2001 Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders J Cell Sci 114 727 738 1:CAS:528:DC%2BD3MXitFWlt78%3D 11171378
10. SA Bustin 2000 Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays J Mol Endocrinol 25 169 193 10.1677/jme.0.0250169 1:CAS:528:DC%2BD3cXnslKgtb8%3D 11013345
11. Cabral R, South A (2009) Inherited disease of the desmosome. In: Cirillo N (ed) Pathophysiology of the desmosome. Research Signpost, Kerala, pp 121-156
12. L Fontao B Favre S Riou D Geerts F Jaunin JH Saurat KJ Green A Sonnenberg L Borradori 2003 Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus Mol Biol Cell 14 1978 1992 10.1091/mbc.E02-08-0548 1:CAS:528:DC%2BD3sXktFKiu7Y%3D 12802069 (Pubitemid 36583547)
13. WW Franke R Moll DL Schiller E Schmid J Kartenbeck H Mueller 1982 Desmoplakins of epithelial and myocardial desmosomes are immunologically and biochemically related Differentiation 23 115 127 10.1111/j.1432-0436.1982. tb01274.x 1:CAS:528:DyaL3sXhtVCrtbY%3D 6762309
14. WW Franke CM Borrmann C Grund S Pieperhoff 2006 The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins Eur J Cell Biol 85 69 82 10.1016/j.ejcb.2005.11.003 1:CAS:528:DC%2BD28XisVagsLY%3D 16406610 (Pubitemid 43137112)
15. GI Gallicano P Kouklis C Bauer M Yin V Vasioukhin L Degenstein E Fuchs 1998 Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage J Cell Biol 143 2009 2022 10.1083/jcb.143.7.2009 1:CAS:528:DyaK1MXisFCqtw%3D%3D 9864371 (Pubitemid 29022620)
16. S Getsios AC Huen KJ Green 2004 Working out the strength and flexibility of desmosomes Nat Rev Mol Cell Biol 5 271 281 10.1038/nrm1356 1:CAS:528:DC%2BD2cXivV2itrw%3D 15071552 (Pubitemid 38480608)
17. KJ Green DA Parry PM Steinert ML Virata RM Wagner BD Angst LA Nilles 1990 Structure of the human desmoplakins. Implications for function in the desmosomal plaque J Biol Chem 265 2603 2612 1:CAS:528:DyaK3cXhsFeqsLk%3D 1689290
18. KJ Green TS Stappenbeck S Noguchi R Oyasu LA Nilles 1991 Desmoplakin expression and distribution in cultured rat bladder epithelial cells of varying tumorigenic potential Exp Cell Res 193 134 143 10.1016/0014-4827(91)90547-8 1:CAS:528:DyaK3MXhsVSktrc%3D 1995289
19. KJ Green TS Stappenbeck DA Parry ML Virata 1992 Structure of desmoplakin and its association with intermediate filaments J Dermatol 19 765 769 1:CAS:528:DyaK3sXitlWjtbo%3D 1293163
20. SM Hebsgaard PG Korning N Tolstrup J Engelbrecht P Rouze S Brunak 1996 Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information Nucleic Acids Res 24 3439 3452 10.1093/nar/24.17. 3439 1:CAS:528:DyaK28XlvVGrs7s%3D 8811101
21. JM Johnson J Castle P Garrett-Engele Z Kan PM Loerch CD Armour R Santos EE Schadt R Stoughton DD Shoemaker 2003 Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays Science 302 2141 2144 10.1126/science.1090100 1:CAS:528:DC%2BD3sXpvVCjs7Y%3D 14684825 (Pubitemid 38017950)
22. MF Jonkman AM Pasmooij SG Pasmans MP van den Berg HJ Ter Horst A Timmer HH Pas 2005 Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa Am J Hum Genet 77 653 660 10.1086/496901 1:CAS:528:DC%2BD2MXhtVKnsb7F 16175511 (Pubitemid 41361612)
23. TM Kinsella GP Nolan 1996 Episomal vectors rapidly and stably produce high-titer recombinant retrovirus Hum Gene Ther 7 1405 1413 10.1089/hum.1996.7. 12-1405 1:CAS:528:DyaK28Xltlaltb8%3D 8844199
24. PD Kouklis E Hutton E Fuchs 1994 Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins J Cell Biol 127 1049 1060 10.1083/jcb.127.4.1049 1:CAS:528:DyaK2cXmslOmsrY%3D 7525601 (Pubitemid 24355992)
25. AP Kowalczyk TS Stappenbeck DA Parry HL Palka ML Virata EA Bornslaeger LA Nilles KJ Green 1994 Structure and function of desmosomal transmembrane core and plaque molecules Biophys Chem 50 97 112 10.1016/0301-4622(94)85023-2 1:CAS:528:DyaK2cXltVCru7k%3D 8011944
26. AP Kowalczyk EA Bornslaeger JE Borgwardt HL Palka AS Dhaliwal CM Corcoran MF Denning KJ Green 1997 The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes J Cell Biol 139 773 784 10.1083/jcb.139.3.773 1:CAS:528:DyaK2sXnt1aisrc%3D 9348293 (Pubitemid 27485841)
27. AP Kowalczyk M Hatzfeld EA Bornslaeger DS Kopp JE Borgwardt CM Corcoran A Settler KJ Green 1999 The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease J Biol Chem 274 18145 18148 10.1074/jbc.274.26.18145 1:CAS:528:DyaK1MXktF2rt7Y%3D 10373410 (Pubitemid 29293795)
28. AJ Matlin F Clark CW Smith 2005 Understanding alternative splicing: towards a cellular code Nat Rev Mol Cell Biol 6 386 398 10.1038/nrm1645 1:CAS:528:DC%2BD2MXjvF2jsbo%3D 15956978 (Pubitemid 40637856)
29. JJ Meng EA Bornslaeger KJ Green PM Steinert W Ip 1997 Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments J Biol Chem 272 21495 21503 10.1074/jbc.272.34.21495 1:CAS:528:DyaK2sXls1Oisr4%3D 9261168 (Pubitemid 27374023)
30. R Moll E Sievers B Hammerling A Schmidt M Barth C Kuhn C Grund I Hofmann WW Franke 2009 Endothelial and virgultar cell formations in the mammalian lymph node sinus: endothelial differentiation morphotypes characterized by a special kind of junction (complexus adhaerens) Cell Tissue Res 335 109 141 10.1007/s00441-008-0700-y 1:CAS:528:DC%2BD1cXhsVOru7vF 19015886
31. JP Morgenstern H Land 1990 Advanced mammalian gene transfer: high titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line Nucleic Acids Res 18 3587 3596 10.1093/nar/18.12.3587 1:CAS:528:DyaK3cXltFSnsrY%3D 2194165
32. H Mueller WW Franke 1983 Biochemical and immunological characterization of desmoplakins I and II, the major polypeptides of the desmosomal plaque J Mol Biol 163 647 671 10.1016/0022-2836(83)90116-X 1:CAS:528:DyaL3sXhtVejtrw%3D 6341602
33. EE Norgett SJ Hatsell L Carvajal-Huerta JC Cabezas J Common PE Purkis N Whittock IM Leigh HP Stevens DP Kelsell 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma Hum Mol Genet 9 2761 2766 10.1093/hmg/9.18.2761 1:CAS:528:DC%2BD3cXosVKkur4%3D 11063735
34. EE Norgett TW Lucke B Bowers CS Munro IM Leigh DP Kelsell 2006 Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin J Invest Dermatol 126 1651 1654 10.1038/sj.jid.5700291 1:CAS:528:DC%2BD28Xls1Khu70%3D 16628197
35. AJ North WG Bardsley J Hyam EA Bornslaeger HC Cordingley B Trinnaman M Hatzfeld KJ Green AI Magee DR Garrod 1999 Molecular map of the desmosomal plaque J Cell Sci 112 4325 4336 1:CAS:528:DC%2BD3cXktFKnsw%3D%3D 10564650
36. EJ O'Keefe HP Erickson V Bennett 1989 Desmoplakin I and desmoplakin II. Purification and characterization J Biol Chem 264 8310 8318 2470743
37. EP Parrish PV Steart DR Garrod RO Weller 1987 Antidesmosomal monoclonal antibody in the diagnosis of intracranial tumours J Pathol 153 265 273 10.1002/path.1711530311 1:STN:280:DyaL1c7hsl2ltA%3D%3D 3323433 (Pubitemid 18004124)
38. MG Reese FH Eeckman D Kulp D Haussler 1997 Improved splice site detection in Genie J Comput Biol 4 311 323 10.1089/cmb.1997.4.311 1:CAS:528: DyaK2sXls1Whtbc%3D 9278062
39. EA Smith E Fuchs 1998 Defining the interactions between intermediate filaments and desmosomes J Cell Biol 141 1229 1241 10.1083/jcb.141.5.1229 1:CAS:528:DyaK1cXjs12ntb8%3D 9606214 (Pubitemid 28265616)
40. AP South H Wan MG Stone PJ Dopping-Hepenstal PE Purkis JF Marshall IM Leigh RA Eady IR Hart JA McGrath 2003 Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability J Cell Sci 116 3303 3314 10.1242/jcs.00636 1:CAS:528:DC%2BD3sXmvFWqs7g%3D 12840072 (Pubitemid 37038979)
41. TS Stappenbeck KJ Green 1992 The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells J Cell Biol 116 1197 1209 10.1083/jcb.116.5.1197 1:CAS:528:DyaK38XotFWqtg%3D%3D 1740472
42. TS Stappenbeck EA Bornslaeger CM Corcoran HH Luu ML Virata KJ Green 1993 Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks J Cell Biol 123 691 705 10.1083/jcb.123.3.691 1:CAS:528:DyaK3sXms1Omsrc%3D 7693716 (Pubitemid 23324925)
43. TS Stappenbeck JA Lamb CM Corcoran KJ Green 1994 Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks J Biol Chem 269 29351 29354 1:CAS:528: DyaK2cXmslCrsrw%3D 7525582
44. A Uzumcu EE Norgett A Dindar O Uyguner K Nisli H Kayserili SE Sahin E Dupont NJ Severs IM Leigh M Yuksel-Apak DP Kelsell B Wollnik 2006 Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome J Med Genet 43 e5 10.1136/jmg.2005.032904 1:STN:280:DC%2BD28%2FotFWktg%3D%3D 16467215
45. O Valiron V Chevrier Y Usson F Breviario D Job E Dejana 1996 Desmoplakin expression and organization at human umbilical vein endothelial cell-to-cell junctions J Cell Sci 109 2141 2149 1:CAS:528:DyaK28XltVOqs7Y%3D 8856510
46. V Vasioukhin E Bowers C Bauer L Degenstein E Fuchs 2001 Desmoplakin is essential in epidermal sheet formation Nat Cell Biol 3 1076 1085 10.1038/ncb1201-1076 1:CAS:528:DC%2BD3MXpt1Ggu7g%3D 11781569 (Pubitemid 33130458)
47. ML Virata RM Wagner DA Parry KJ Green 1992 Molecular structure of the human desmoplakin I and II amino terminus Proc Natl Acad Sci USA 89 544 548 10.1073/pnas.89.2.544 1:CAS:528:DyaK3sXkt1aqtrg%3D 1731325
48. H Wan AP South IR Hart 2007 Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference Exp Cell Res 313 2336 2344 10.1016/j.yexcr.2007.01.010 1:CAS:528:DC%2BD2sXmsFyrsbY%3D 17475244 (Pubitemid 46900938)
49. NV Whittock GH Ashton PJ Dopping-Hepenstal MJ Gratian FM Keane RA Eady JA McGrath 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency J Invest Dermatol 113 940 946 10.1046/j.1523-1747.1999.00783. x 1:CAS:528:DC%2BD3cXhtFGisQ%3D%3D 10594734 (Pubitemid 30013335)
50. Z Zhang S Schwartz L Wagner W Miller 2000 A greedy algorithm for aligning DNA sequences J Comput Biol 7 203 214 10.1089/10665270050081478 1:CAS:528:DC%2BD3cXktl2qsrY%3D 10890397 (Pubitemid 30412170)