T3DB: DNA polymerase epsilon catalytic subunit A

Name	DNA polymerase epsilon catalytic subunit A
Synonyms	2.7.7.7 DNA polymerase II subunit A POLE1
Gene Name	POLE
Organism	Human
Amino acid sequence	>lcl\|BSEQ0006953\|DNA polymerase epsilon catalytic subunit A MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKT GWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFL SKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQ DHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYDVPYHIRLSIDLKIHV AHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMV TYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFA LCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYV GGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPG ANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEK RRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKGLHKVWKKKLS AAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFN EDGSLAELKGFEVKRRGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSK AANMPDSELFELISENRSMSRKLEDYGEQKSTSISTAKRLAEFLGDQMVKDAGLSCRYII SRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIRAILDWDYYIERLGSA IQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLR RTARSILDLPWQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGAS YRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVH LGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETD LKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYG VLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTIL QSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLG SSVIYANFNRIILCTKKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPS NYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERDGEEEEEAEESNVEDLLENNW NILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGASQLSQEAEGA VGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRS CNFCRDLDLCKDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLV CLKCRGVKETSMPVYCSCAGDFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQK NPQLGH
Number of residues	2286
Molecular Weight	261515.525
Theoretical pI	6.35
GO Classification	Functions DNA-directed DNA polymerase activity 3'-5' exonuclease activity chromatin binding 4 iron, 4 sulfur cluster binding nucleotide binding zinc ion binding DNA binding Processes DNA replication base-excision repair, gap-filling DNA synthesis involved in DNA repair DNA replication initiation in utero embryonic development mitotic cell cycle nucleotide-excision repair, DNA gap filling telomere maintenance telomere maintenance via recombination telomere maintenance via semi-conservative replication G1/S transition of mitotic cell cycle Components nucleus epsilon DNA polymerase complex plasma membrane nucleoplasm
General Function	Zinc ion binding
Specific Function	Participates in DNA repair and in chromosomal DNA replication.
Pfam Domain Function	DNA_pol_B (PF00136 ) DNA_pol_B_exo1 (PF03104 ) DUF1744 (PF08490 )
Transmembrane Regions	Not Available
GenBank Protein ID	3192938
UniProtKB ID	Q07864
UniProtKB Entry Name	DPOE1_HUMAN
Cellular Location	Nucleus
Gene sequence	>lcl\|BSEQ0012512\|DNA polymerase epsilon catalytic subunit A (POLE) ATGTCTCTGAGGAGCGGCGGGCGGCGGCGCGCGGACCCAGGCGCGGATGGCGAGGCCAGC AGGGATGATGGCGCCACTTCCTCAGTTTCGGCACTCAAGCGCCTGGAACGGAGTCAGTGG ACGGATAAGATGGATTTGCGGTTTGGTTTTGAGCGGCTGAAGGAGCCTGGTGAGAAGACA GGCTGGCTCATTAACATGCATCCTACCGAGATTTTAGATGAAGATAAGCGCTTAGGCAGT GCAGTGGATTACTACTTTATTCAAGATGACGGAAGCAGATTTAAGGTGGCTTTGCCCTAT AAACCGTATTTCTACATTGCGACCAGAAAGGGTTGTGAGCGAGAAGTTTCATCTTTTCTC TCCAAGAAGTTTCAGGGCAAAATTGCAAAAGTGGAGACTGTCCCCAAAGAGGATCTGGAC TTGCCAAATCACTTGGTGGGTTTGAAGCGAAATTACATCAGGCTGTCCTTCCACACTGTG GAGGATCTTGTCAAAGTGAGGAAGGAGATCTCCCCTGCCGTGAAGAAGAACAGGGAGCAG GATCACGCCAGCGACGCGTACACAGCTCTGCTTTCCAGTGTTCTGCAGAGGGGCGGTGTC ATTACTGATGAAGAGGAAACCTCTAAGAAGATAGCTGACCAGTTGGACAACATTGTGGAC ATGCGCGAGTACGATGTTCCCTACCACATCCGCCTCTCCATTGACCTGAAGATCCACGTG GCTCATTGGTACAATGTCAGATACCGAGGAAATGCTTTTCCGGTAGAAATCACCCGCCGA GATGACCTTGTTGAACGACCTGACCCTGTGGTTTTGGCATTTGACATTGAGACGACCAAA CTGCCCCTCAAGTTTCCTGATGCTGAGACAGACCAGATTATGATGATTTCCTACATGATC GATGGCCAGGGCTACCTCATCACCAACAGGGAGATTGTTTCAGAAGATATTGAAGATTTT GAGTTCACCCCCAAGCCAGAATATGAAGGCCCCTTTTGTGTCTTCAATGAACCCGATGAG GCTCATCTGATCCAAAGGTGGTTTGAACACGTCCAGGAGACCAAACCCACCATCATGGTC ACCTACAACGGGGACTTTTTTGACTGGCCATTTGTGGAGGCCCGGGCAGCAGTCCACGGT CTGAGCATGCAGCAGGAGATAGGCTTCCAGAAGGACAGCCAGGGGGAGTACAAGGCGCCC CAGTGCATCCACATGGACTGCCTCAGGTGGGTGAAGAGGGACAGTTACCTTCCTGTGGGC AGTCATAATCTCAAGGCGGCCGCCAAGGCCAAGCTAGGCTATGATCCCGTGGAGCTAGAC CCGGAGGACATGTGCCGGATGGCCACGGAGCAGCCCCAGACTCTGGCCACGTATTCTGTG TCAGATGCTGTCGCCACTTACTACCTGTACATGAAGTACGTCCACCCATTCATCTTTGCT CTGTGCACCATTATTCCCATGGAGCCCGACGAGGTGCTGCGGAAGGGCTCTGGCACTCTG TGTGAGGCCTTGCTGATGGTGCAGGCCTTCCACGCCAACATCATCTTCCCCAACAAGCAA GAGCAGGAGTTCAATAAGCTGACGGACGACGGACACGTGCTGGACTCTGAGACCTACGTC GGGGGCCACGTGGAGGCCCTCGAGTCTGGGGTTTTCCGCAGCGATATCCCTTGCCGGTTT AGGATGAATCCTGCCGCCTTTGACTTCCTGCTGCAGCGGGTTGAGAAGACCTTGCGCCAC GCCCTTGAGGAAGAGGAGAAAGTGCCTGTGGAGCAAGTCACCAACTTTGAAGAGGTGTGT GATGAGATTAAGAGCAAGCTTGCCTCCCTGAAGGACGTTCCCAGCCGCATCGAGTGTCCA CTCATCTACCACCTGGACGTGGGGGCCATGTACCCCAACATCATCCTGACCAACCGCCTG CAGCCCTCTGCCATGGTGGACGAAGCCACCTGTGCTGCCTGTGACTTCAATAAGCCTGGA GCAAACTGCCAGCGGAAGATGGCCTGGCAGTGGAGGGGCGAGTTCATGCCAGCCAGTCGC AGCGAATACCATCGGATCCAGCACCAGCTGGAGTCAGAGAAGTTCCCCCCCTTGTTCCCA GAGGGGCCAGCTCGGGCCTTTCATGAACTGTCCCGCGAGGAACAGGCGAAATACGAGAAG AGAAGGCTGGCGGATTACTGCCGGAAAGCCTACAAGAAGATCCACATCACCAAGGTGGAA GAGCGTCTCACCACCATCTGCCAGCGGGAAAACTCCTTCTACGTGGACACCGTGCGTGCC TTCCGGGACAGGCGTTACGAGTTCAAAGGGCTCCACAAGGTGTGGAAAAAGAAGCTCTCG GCGGCCGTGGAGGTGGGCGACGCGGCTGAGGTGAAGCGCTGCAAGAACATGGAGGTGCTG TATGACTCGCTGCAGCTGGCCCACAAGTGCATCCTGAACTCCTTCTATGGCTATGTCATG CGCAAGGGGGCTCGCTGGTACTCCATGGAGATGGCTGGCATCGTCTGCTTCACAGGGGCC AACATCATCACCCAGGCACGGGAGCTGATCGAGCAGATTGGGAGGCCCTTAGAGCTGGAC ACAGATGGTATATGGTGCGTCCTGCCCAACAGCTTCCCAGAAAATTTTGTCTTCAAGACG ACCAATGTGAAGAAGCCCAAAGTGACCATCTCCTACCCAGGCGCCATGTTGAACATCATG GTCAAGGAAGGCTTCACCAATGACCAGTACCAGGAGCTGGCTGAGCCGTCCTCACTCACC TACGTCACCCGCTCAGAGAACAGCATCTTTTTTGAGGTTGATGGGCCCTACCTTGCCATG ATTCTTCCAGCCTCCAAGGAAGAAGGCAAGAAATTGAAGAAGAGGTATGCTGTGTTCAAT GAAGACGGTTCTCTGGCTGAGCTCAAGGGCTTTGAGGTCAAACGCCGCGGGGAACTGCAG CTGATTAAGATCTTCCAATCCTCGGTGTTTGAGGCCTTCCTCAAGGGCAGCACGCTGGAA GAGGTGTATGGCTCTGTAGCCAAGGTGGCTGACTACTGGCTGGACGTGCTGTACAGCAAG GCAGCCAACATGCCTGACTCTGAGCTATTCGAGCTCATCTCTGAGAACCGTTCCATGTCT CGGAAGCTGGAAGATTACGGGGAGCAGAAGTCTACGTCCATCAGCACAGCAAAGCGCCTG GCCGAGTTCCTGGGAGACCAGATGGTCAAGGATGCAGGGCTGAGTTGCCGCTACATCATC TCCCGCAAGCCCGAGGGCTCCCCTGTCACGGAGAGGGCCATCCCACTTGCCATTTTCCAA GCAGAGCCCACGGTGAGGAAGCACTTTCTCCGGAAATGGCTCAAGAGCTCTTCCCTTCAA GACTTTGATATTCGAGCAATTCTGGATTGGGACTACTACATTGAGCGGCTGGGAAGCGCC ATCCAGAAGATCATCACCATCCCTGCGGCCCTGCAGCAGGTAAAGAACCCAGTGCCACGT GTCAAACACCCCGACTGGCTGCACAAAAAACTGCTGGAGAAGAATGATGTCTACAAGCAG AAGAAGATCAGTGAGCTCTTCACCCTGGAGGGCAGGAGACAGGTCACGATGGCCGAGGCC TCAGAAGACAGTCCGAGGCCAAGTGCTCCTGACATGGAGGACTTCGGCCTCGTAAAGCTG CCTCACCCAGCAGCCCCTGTCACTGTGAAGAGGAAGCGAGTTCTTTGGGAGAGCCAGGAG GAGTCCCAGGACCTCACGCCGACTGTGCCCTGGCAGGAAATCTTGGGGCAGCCTCCCGCC CTGGGAACCAGCCAGGAGGAATGGCTTGTCTGGCTCCGGTTCCACAAGAAGAAGTGGCAG CTGCAGGCCCGGCAGCGCCTCGCCCGCAGGAAGAGGCAGCGTCTGGAGTCGGCAGAGGGT GTGCTCAGGCCCGGGGCCATCCGGGATGGTCCTGCCACGGGGCTGGGGAGCTTCTTGCGA AGAACTGCCCGCAGCATCCTGGACCTTCCGTGGCAGATTGTGCAGATCAGCGAGACCAGC CAGGCCGGCCTGTTCAGGCTGTGGGCGCTCGTTGGCAGTGACTTGCACTGCATCAGGCTG AGCATCCCCCGTGTGTTCTACGTGAACCAGCGAGTCGCTAAAGCGGAGGAGGGTGCTTCG TATCGCAAGGTAAATCGGGTCCTTCCTCGCTCCAACATGGTCTACAATCTCTATGAGTAT TCAGTGCCAGAGGACATGTACCAGGAACACATCAACGAGATCAACGCTGAGCTGTCAGCG CCAGACATCGAGGGCGTATATGAGACTCAGGTTCCGTTACTGTTCCGGGCCCTGGTGCAC CTGGGCTGTGTGTGTGTGGTCAATAAACAGCTGGTGAGGCACCTTTCAGGCTGGGAAGCA GAGACCTTTGCTCTTGAGCACCTGGAGATGCGCTCTCTGGCCCAGTTCAGCTACCTGGAA CCAGGGAGTATCCGCCATATCTACCTGTACCACCACGCACAGGCCCACAAAGCGCTCTTC GGGATCTTCATCCCCTCACAGCGCAGGGCATCCGTCTTTGTGCTGGACACTGTGCGCAGC AACCAGATGCCCAGCCTTGGCGCCCTGTACTCAGCAGAGCACGGCCTCCTCCTGGAGAAG GTGGGCCCTGAGCTCCTGCCACCCCCCAAACACACCTTCGAAGTTCGGGCAGAAACTGAC CTGAAGACCATCTGCAGAGCCATCCAGCGATTCCTGCTCGCCTACAAGGAGGAGCGCCGG GGGCCCACACTCATCGCTGTTCAGTCCAGCTGGGAGCTGAAGAGGCTGGCCAGTGAAATT CCTGTCTTGGAGGAATTCCCACTGGTGCCTATCTGTGTGGCTGACAAGATCAACTATGGG GTCCTGGACTGGCAGCGCCATGGAGCCCGGCGCATGATCCGTCACTACCTCAACCTGGAC ACCTGCCTGTCGCAGGCCTTCGAGATGAGCAGGTACTTTCACATTCCCATTGGGAACCTA CCAGAGGACATCTCCACATTCGGCTCCGACCTCTTCTTTGCCCGCCACCTCCAGCGCCAC AACCACCTGCTCTGGCTGTCCCCTACAGCCCGCCCTGACCTGGGTGGAAAGGAGGCTGAT GACAACTGTCTTGTCATGGAGTTCGATGACCAAGCCACTGTTGAGATCAACAGTTCAGGC TGTTACTCCACAGTGTGTGTGGAGCTGGACCTTCAGAACCTGGCCGTCAACACCATTCTC CAGTCTCACCATGTCAACGACATGGAGGGGGCCGACAGCATGGGGATCAGCTTCGACGTG ATCCAGCAGGCCTCCCTGGAGGACATGATCACGGGTGGTCAGGCTGCCAGTGCCCCGGCC AGCTACGATGAGACAGCCCTGTGCTCTAACACCTTCAGGATCCTGAAGAGCATGGTCGTG GGCTGGGTGAAGGAGATCACCCAGTACCACAACATCTATGCAGACAACCAGGTGATGCAC TTCTACCGCTGGCTTCGGTCGCCATCCTCTCTGCTTCATGACCCTGCCCTGCACCGCACA CTCCACAACATGATGAAGAAGCTCTTCCTGCAGCTCATCGCTGAGTTCAAGCGCCTGGGG TCATCAGTCATCTACGCCAACTTCAACCGCATCATCCTCTGTACAAAGAAGCGCCGTGTG GAAGATGCCATCGCTTACGTGGAGTACATCACCAGCAGCATCCATTCAAAGGAGACCTTC CATTCTCTGACAATTTCTTTCTCTCGATGCTGGGAATTTCTTCTCTGGATGGATCCATCT AACTATGGCGGAATCAAAGGAAAAGTTTCATCTCGTATTCACTGTGGACTGCAAGACTCC CAGAAAGCAGGGGGAGCAGAGGATGAGCAGGAAAATGAGGACGATGAGGAGGAAAGAGAT GGGGAGGAGGAGGAAGAGGCGGAGGAATCCAACGTGGAGGATTTACTGGAAAACAACTGG AACATTTTGCAGTTTTTGCCACAGGCAGCCTCCTGCCAGAACTACTTCCTCATGATTGTT TCAGCGTACATCGTGGCCGTGTACCACTGCATGAAGGACGGGCTGAGGCGCAGTGCTCCA GGGAGCACCCCCGTGAGGAGGAGGGGGGCCAGCCAGCTCTCCCAGGAGGCCGAGGGGGCG GTCGGAGCCCTTCCCGGAATGATCACCTTCTCTCAGGATTATGTCGCAAATGAGCTCACT CAGAGCTTCTTCACCATCACTCAGAAGATTCAGAAGAAAGTCACAGGCTCTCGGAACTCC ACTGAGCTCTCAGAGATGTTTCCTGTCCTCCCCGGTTCCCACTTGCTGCTCAATAACCCT GCCCTGGAGTTCATCAAATACGTGTGCAAGGTGCTGTCCCTGGACACCAACATCACAAAC CAGGTGAATAAGCTGAACCGAGACCTGCTTCGCCTGGTGGATGTCGGCGAGTTCTCCGAG GAGGCCCAGTTCCGAGACCCCTGCCGCTCCTACGTGCTTCCTGAGGTCATCTGCCGCAGC TGTAACTTCTGCCGCGACCTGGACCTGTGTAAAGACTCTTCCTTCTCAGAGGATGGGGCG GTCCTGCCTCAGTGGCTCTGCTCCAACTGTCAGGCGCCCTACGACTCCTCTGCCATCGAG ATGACGCTGGTGGAAGTTCTACAGAAGAAGCTGATGGCCTTCACCCTGCAGGACCTGGTC TGCCTGAAGTGCCGCGGGGTGAAGGAGACCAGCATGCCTGTGTACTGCAGCTGCGCGGGA GACTTCGCCCTCACCATCCACACCCAGGTCTTCATGGAACAGATCGGAATATTCCGGAAC ATTGCCCAGCACTACGGCATGTCGTACCTCCTGGAGACCCTGGAGTGGCTGCTGCAGAAG AACCCACAGCTGGGCCATTAG
GenBank Gene ID	L09561
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:9177
Chromosome Location	12
Locus	12q24.3
References	Kesti T, Frantti H, Syvaoja JE: Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. J Biol Chem. 1993 May 15;268(14):10238-45. 8486689 Li Y, Pursell ZF, Linn S: Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. J Biol Chem. 2000 Jul 28;275(30):23247-52. 10801849 Makiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Makela TP, Syvaoja JE: BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. J Biol Chem. 2001 Aug 10;276(32):30399-406. Epub 2001 Jun 6. 11395493 Post SM, Tomkinson AE, Lee EY: The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon. Nucleic Acids Res. 2003 Oct 1;31(19):5568-75. 14500819 Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. 17525332 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 Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460 Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G: Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. 23230001 Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. 23263490 Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I: New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5. 24501277