NameHistone deacetylase 4
Synonyms
  • 3.5.1.98
  • HD4
  • KIAA0288
Gene NameHDAC4
OrganismHuman
Amino acid sequence
>lcl|BSEQ0037861|Histone deacetylase 4
MSSQSHPDGLSGRDQPVELLNPARVNHMPSTVDVATALPLQVAPSAVPMDLRLDHQFSLP
VAEPALREQQLQQELLALKQKQQIQRQILIAEFQRQHEQLSRQHEAQLHEHIKQQQEMLA
MKHQQELLEHQRKLERHRQEQELEKQHREQKLQQLKNKEKGKESAVASTEVKMKLQEFVL
NKKKALAHRNLNHCISSDPRYWYGKTQHSSLDQSSPPQSGVSTSYNHPVLGMYDAKDDFP
LRKTASEPNLKLRSRLKQKVAERRSSPLLRRKDGPVVTALKKRPLDVTDSACSSAPGSGP
SSPNNSSGSVSAENGIAPAVPSIPAETSLAHRLVAREGSAAPLPLYTSPSLPNITLGLPA
TGPSAGTAGQQDAERLTLPALQQRLSLFPGTHLTPYLSTSPLERDGGAAHSPLLQHMVLL
EQPPAQAPLVTGLGALPLHAQSLVGADRVSPSIHKLRQHRPLGRTQSAPLPQNAQALQHL
VIQQQHQQFLEKHKQQFQQQQLQMNKIIPKPSEPARQPESHPEETEEELREHQALLDEPY
LDRLPGQKEAHAQAGVQVKQEPIESDEEEAEPPREVEPGQRQPSEQELLFRQQALLLEQQ
RIHQLRNYQASMEAAGIPVSFGGHRPLSRAQSSPASATFPVSVQEPPTKPRFTTGLVYDT
LMLKHQCTCGSSSSHPEHAGRIQSIWSRLQETGLRGKCECIRGRKATLEELQTVHSEAHT
LLYGTNPLNRQKLDSKKLLGSLASVFVRLPCGGVGVDSDTIWNEVHSAGAARLAVGCVVE
LVFKVATGELKNGFAVVRPPGHHAEESTPMGFCYFNSVAVAAKLLQQRLSVSKILIVDWD
VHHGNGTQQAFYSDPSVLYMSLHRYDDGNFFPGSGAPDEVGTGPGVGFNVNMAFTGGLDP
PMGDAEYLAAFRTVVMPIASEFAPDVVLVSSGFDAVEGHPTPLGGYNLSARCFGYLTKQL
MGLAGGRIVLALEGGHDLTAICDASEACVSALLGNELDPLPEKVLQQRPNANAVRSMEKV
MEIHSKYWRCLQRTTSTAGRSLIEAQTCENEEAETVTAMASLSVGVKPAEKRPDEEPMEE
EPPL
Number of residues1084
Molecular Weight119038.875
Theoretical pI6.96
GO Classification
Functions
  • zinc ion binding
  • RNA polymerase III transcription factor binding
  • transcription corepressor activity
  • chromatin binding
  • repressing transcription factor binding
  • transcription factor binding
  • histone deacetylase activity
  • activating transcription factor binding
  • core promoter binding
  • potassium ion binding
  • histone deacetylase binding
  • NAD-dependent histone deacetylase activity (H3-K14 specific)
  • protein deacetylase activity
Processes
  • positive regulation of transcription from RNA polymerase II promoter
  • histone H4 deacetylation
  • cardiac muscle hypertrophy in response to stress
  • osteoblast development
  • nervous system development
  • positive regulation of lamellipodium assembly
  • B cell differentiation
  • positive regulation of cell proliferation
  • negative regulation of osteoblast differentiation
  • positive regulation of neuron apoptotic process
  • negative regulation of myotube differentiation
  • response to drug
  • B cell activation
  • negative regulation of transcription from RNA polymerase II promoter
  • regulation of cardiac muscle contraction by calcium ion signaling
  • regulation of gene expression, epigenetic
  • inflammatory response
  • response to denervation involved in regulation of muscle adaptation
  • peptidyl-lysine deacetylation
  • positive regulation of reactive oxygen species biosynthetic process
  • positive regulation of smooth muscle cell migration
  • positive regulation of sequence-specific DNA binding transcription factor activity
  • positive regulation of smooth muscle cell proliferation
  • histone deacetylation
  • transcription, DNA-templated
  • regulation of protein binding
  • negative regulation of sequence-specific DNA binding transcription factor activity
  • cellular response to mechanical stimulus
  • negative regulation of glycolytic process
  • negative regulation of transcription, DNA-templated
  • cellular response to tumor necrosis factor
  • positive regulation of transcription, DNA-templated
  • cellular response to parathyroid hormone stimulus
  • skeletal system development
  • chromatin remodeling
  • positive regulation of protein sumoylation
  • response to interleukin-1
  • negative regulation of cell proliferation
  • histone H3 deacetylation
  • regulation of skeletal muscle fiber development
Components
  • cytoplasm
  • nucleus
  • Z disc
  • A band
  • histone deacetylase complex
  • cytosol
  • nucleoplasm
  • actomyosin
  • transcriptional repressor complex
  • neuromuscular junction
General FunctionZinc ion binding
Specific FunctionResponsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP56524
UniProtKB Entry NameHDAC4_HUMAN
Cellular LocationNucleus
Gene sequence
>lcl|BSEQ0021689|Histone deacetylase 4 (HDAC4)
ATGAGCTCCCAAAGCCATCCAGATGGACTTTCTGGCCGAGACCAGCCAGTGGAGCTGCTG
AATCCTGCCCGCGTGAACCACATGCCCAGCACGGTGGATGTGGCCACGGCGCTGCCTCTG
CAAGTGGCCCCCTCGGCAGTGCCCATGGACCTGCGCCTGGACCACCAGTTCTCACTGCCT
GTGGCAGAGCCGGCCCTGCGGGAGCAGCAGCTGCAGCAGGAGCTCCTGGCGCTCAAGCAG
AAGCAGCAGATCCAGAGGCAGATCCTCATCGCTGAGTTCCAGAGGCAGCACGAGCAGCTC
TCCCGGCAGCACGAGGCGCAGCTCCACGAGCACATCAAGCAACAACAGGAGATGCTGGCC
ATGAAGCACCAGCAGGAGCTGCTGGAACACCAGCGGAAGCTGGAGAGGCACCGCCAGGAG
CAGGAGCTGGAGAAGCAGCACCGGGAGCAGAAGCTGCAGCAGCTCAAGAACAAGGAGAAG
GGCAAAGAGAGTGCCGTGGCCAGCACAGAAGTGAAGATGAAGTTACAAGAATTTGTCCTC
AATAAAAAGAAGGCGCTGGCCCACCGGAATCTGAACCACTGCATTTCCAGCGACCCTCGC
TACTGGTACGGGAAAACGCAGCACAGTTCCCTTGACCAGAGTTCTCCACCCCAGAGCGGA
GTGTCGACCTCCTATAACCACCCGGTCCTGGGAATGTACGACGCCAAAGATGACTTCCCT
CTTAGGAAAACAGCTTCTGAACCGAATCTGAAATTACGGTCCAGGCTAAAGCAGAAAGTG
GCCGAAAGACGGAGCAGCCCCCTGTTACGCAGGAAAGACGGGCCAGTGGTCACTGCTCTA
AAAAAGCGTCCGTTGGATGTCACAGACTCCGCGTGCAGCAGCGCCCCAGGCTCCGGACCC
AGCTCACCCAACAACAGCTCCGGGAGCGTCAGCGCGGAGAACGGTATCGCGCCCGCCGTC
CCCAGCATCCCGGCGGAGACGAGTTTGGCGCACAGACTTGTGGCACGAGAAGGCTCGGCC
GCTCCACTTCCCCTCTACACATCGCCATCCTTGCCCAACATCACGCTGGGCCTGCCTGCC
ACCGGCCCCTCTGCGGGCACGGCGGGCCAGCAGGACGCCGAGAGACTCACCCTTCCCGCC
CTCCAGCAGAGGCTCTCCCTTTTCCCCGGCACCCACCTCACTCCCTACCTGAGCACCTCG
CCCTTGGAGCGGGACGGAGGGGCAGCGCACAGCCCTCTTCTGCAGCACATGGTCTTACTG
GAGCAGCCGCCGGCACAAGCACCCCTCGTCACAGGCCTGGGAGCACTGCCCCTCCACGCA
CAGTCCTTGGTTGGTGCAGACCGGGTGTCCCCCTCCATCCACAAGCTGCGGCAGCACCGC
CCACTGGGGCGGACCCAGTCGGCCCCGCTGCCCCAGAACGCCCAGGCTCTGCAGCACCTG
GTCATCCAGCAGCAGCATCAGCAGTTTCTGGAGAAACACAAGCAGCAGTTCCAGCAGCAG
CAACTGCAGATGAACAAGATCATCCCCAAGCCAAGCGAGCCAGCCCGGCAGCCGGAGAGC
CACCCGGAGGAGACGGAGGAGGAGCTCCGTGAGCACCAGGCTCTGCTGGACGAGCCCTAC
CTGGACCGGCTGCCGGGGCAGAAGGAGGCGCACGCACAGGCCGGCGTGCAGGTGAAGCAG
GAGCCCATTGAGAGCGATGAGGAAGAGGCAGAGCCCCCACGGGAGGTGGAGCCGGGCCAG
CGCCAGCCCAGTGAGCAGGAGCTGCTCTTCAGACAGCAAGCCCTCCTGCTGGAGCAGCAG
CGGATCCACCAGCTGAGGAACTACCAGGCGTCCATGGAGGCCGCCGGCATCCCCGTGTCC
TTCGGCGGCCACAGGCCTCTGTCCCGGGCGCAGTCCTCACCCGCGTCTGCCACCTTCCCC
GTGTCTGTGCAGGAGCCCCCCACCAAGCCGAGGTTCACGACAGGCCTCGTGTATGACACG
CTGATGCTGAAGCACCAGTGCACCTGCGGGAGTAGCAGCAGCCACCCCGAGCACGCCGGG
AGGATCCAGAGCATCTGGTCCCGCCTGCAGGAGACGGGCCTCCGGGGCAAATGCGAGTGC
ATCCGCGGACGCAAGGCCACCCTGGAGGAGCTACAGACGGTGCACTCGGAAGCCCACACC
CTCCTGTATGGCACGAACCCCCTCAACCGGCAGAAACTGGACAGTAAGAAACTTCTAGGC
TCGCTCGCCTCCGTGTTCGTCCGGCTCCCTTGCGGTGGTGTTGGGGTGGACAGTGACACC
ATATGGAACGAGGTGCACTCGGCGGGGGCAGCCCGCCTGGCTGTGGGCTGCGTGGTAGAG
CTGGTCTTCAAGGTGGCCACAGGGGAGCTGAAGAATGGCTTTGCTGTGGTCCGCCCCCCT
GGACACCATGCGGAGGAGAGCACGCCCATGGGCTTTTGCTACTTCAACTCCGTGGCCGTG
GCAGCCAAGCTTCTGCAGCAGAGGTTGAGCGTGAGCAAGATCCTCATCGTGGACTGGGAC
GTGCACCATGGAAACGGGACCCAGCAGGCTTTCTACAGCGACCCCAGCGTCCTGTACATG
TCCCTCCACCGCTACGACGATGGGAACTTCTTCCCAGGCAGCGGGGCTCCTGATGAGGTG
GGCACAGGGCCCGGCGTGGGTTTCAACGTCAACATGGCTTTCACCGGCGGCCTGGACCCC
CCCATGGGAGACGCTGAGTACTTGGCGGCCTTCAGAACGGTGGTCATGCCGATCGCCAGC
GAGTTTGCCCCGGATGTGGTGCTGGTGTCATCAGGCTTCGATGCCGTGGAGGGCCACCCC
ACCCCTCTTGGGGGCTACAACCTCTCCGCCAGATGCTTCGGGTACCTGACGAAGCAGCTG
ATGGGCCTGGCTGGCGGCCGGATTGTCCTGGCCCTCGAGGGAGGCCACGACCTGACCGCC
ATTTGCGACGCCTCGGAAGCATGTGTTTCTGCCTTGCTGGGAAACGAGCTTGATCCTCTC
CCAGAAAAGGTTTTACAGCAAAGACCCAATGCAAACGCTGTCCGTTCCATGGAGAAAGTC
ATGGAGATCCACAGCAAGTACTGGCGCTGCCTGCAGCGCACAACCTCCACAGCGGGGCGT
TCTCTGATCGAGGCTCAGACTTGCGAGAACGAAGAAGCCGAGACGGTCACCGCCATGGCC
TCGCTGTCCGTGGGCGTGAAGCCCGCCGAAAAGAGACCAGATGAGGAGCCCATGGAAGAG
GAGCCGCCCCTGTAG
GenBank Gene IDAF132607
GeneCard IDNot Available
GenAtlas IDHDAC4
HGNC IDHGNC:14063
Chromosome Location2
LocusNot Available
References
  1. Grozinger CM, Hassig CA, Schreiber SL: Three proteins define a class of human histone deacetylases related to yeast Hda1p. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):4868-73. 10220385
  2. Ohara O, Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Nomura N: Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins. DNA Res. 1997 Feb 28;4(1):53-9. 9179496
  3. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 15815621
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. Miska EA, Karlsson C, Langley E, Nielsen SJ, Pines J, Kouzarides T: HDAC4 deacetylase associates with and represses the MEF2 transcription factor. EMBO J. 1999 Sep 15;18(18):5099-107. 10487761
  6. Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ: HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. Mol Cell Biol. 1999 Nov;19(11):7816-27. 10523670
  7. Wang AH, Kruhlak MJ, Wu J, Bertos NR, Vezmar M, Posner BI, Bazett-Jones DP, Yang XJ: Regulation of histone deacetylase 4 by binding of 14-3-3 proteins. Mol Cell Biol. 2000 Sep;20(18):6904-12. 10958686
  8. Zhao X, Ito A, Kane CD, Liao TS, Bolger TA, Lemrow SM, Means AR, Yao TP: The modular nature of histone deacetylase HDAC4 confers phosphorylation-dependent intracellular trafficking. J Biol Chem. 2001 Sep 14;276(37):35042-8. Epub 2001 Jul 24. 11470791
  9. McKinsey TA, Zhang CL, Olson EN: Identification of a signal-responsive nuclear export sequence in class II histone deacetylases. Mol Cell Biol. 2001 Sep;21(18):6312-21. 11509672
  10. Franco PJ, Farooqui M, Seto E, Wei LN: The orphan nuclear receptor TR2 interacts directly with both class I and class II histone deacetylases. Mol Endocrinol. 2001 Aug;15(8):1318-28. 11463856
  11. Kirsh O, Seeler JS, Pichler A, Gast A, Muller S, Miska E, Mathieu M, Harel-Bellan A, Kouzarides T, Melchior F, Dejean A: The SUMO E3 ligase RanBP2 promotes modification of the HDAC4 deacetylase. EMBO J. 2002 Jun 3;21(11):2682-91. 12032081
  12. Barrett A, Santangelo S, Tan K, Catchpole S, Roberts K, Spencer-Dene B, Hall D, Scibetta A, Burchell J, Verdin E, Freemont P, Taylor-Papadimitriou J: Breast cancer associated transcriptional repressor PLU-1/JARID1B interacts directly with histone deacetylases. Int J Cancer. 2007 Jul 15;121(2):265-75. 17373667
  13. Little GH, Bai Y, Williams T, Poizat C: Nuclear calcium/calmodulin-dependent protein kinase IIdelta preferentially transmits signals to histone deacetylase 4 in cardiac cells. J Biol Chem. 2007 Mar 9;282(10):7219-31. Epub 2006 Dec 19. 17179159
  14. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. 18669648
  15. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. 19690332
  16. Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH: Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011. 20691407
  17. Shao Y, Li Y, Zhang J, Liu D, Liu F, Zhao Y, Shen T, Li F: Involvement of histone deacetylation in MORC2-mediated down-regulation of carbonic anhydrase IX. Nucleic Acids Res. 2010 May;38(9):2813-24. doi: 10.1093/nar/gkq006. Epub 2010 Jan 27. 20110259
  18. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. 20068231
  19. Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011 Mar 15;4(164):rs3. doi: 10.1126/scisignal.2001570. 21406692
  20. Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. Eur J Hum Genet. 2013 Jul;21(7):743-8. doi: 10.1038/ejhg.2012.240. Epub 2012 Nov 28. 23188045
  21. Kang HJ, Lee MH, Kang HL, Kim SH, Ahn JR, Na H, Na TY, Kim YN, Seong JK, Lee MO: Differential regulation of estrogen receptor alpha expression in breast cancer cells by metastasis-associated protein 1. Cancer Res. 2014 Mar 1;74(5):1484-94. doi: 10.1158/0008-5472.CAN-13-2020. Epub 2014 Jan 10. 24413532
  22. Wheeler PG, Huang D, Dai Z: Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. Am J Med Genet A. 2014 Jul;164A(7):1826-9. doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8. 24715439
  23. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  24. Xu C, Jin J, Bian C, Lam R, Tian R, Weist R, You L, Nie J, Bochkarev A, Tempel W, Tan CS, Wasney GA, Vedadi M, Gish GD, Arrowsmith CH, Pawson T, Yang XJ, Min J: Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock. Sci Signal. 2012 May 29;5(226):ra39. doi: 10.1126/scisignal.2002979. 22649097
  25. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. 16959974
  26. Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gerard B, Peoc'h K, Launay JM, Faivre L, Mandel JL: 20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30. 24169519