Basic Information
| First Name | |
| Last Name | |
| Organization | |
| Department | |
| Website | http://recherche.maisonneuve-rosemont.org/en-ca/research/our-research-investigators/wurtele-hugo.html |
Contact Information
| hugo.wurtele@umontreal.ca | |
| Phone | 514-252-3400 #7288 |
About My Research
Reactome Pathways
| Term ID | Term Name | Term Definition |
|---|---|---|
| R-HSA-69306 | DNA Replication | Studies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyces cerevisiae (budding yeast), is well understood, and has served as a model for studies of DNA replication initiation in multicellular eukaryotes, including humans. In general terms, the first step of initiation is the binding of the replication initiator to the origin of replication. The replicative helicase is then assembled onto the origin, usually by a helicase assembly factor. Either shortly before or shortly after helicase assembly, some local unwinding of the origin of replication occurs in a region rich in adenine and thymine bases (often termed a DNA unwinding element, DUE). The unwound region provides the substrate for primer synthesis and initiation of DNA replication. The best-defined eukaryotic origins are those of S. cerevisiae, which have well-conserved sequence elements for initiator binding, DNA unwinding and binding of accessory proteins. In multicellular eukaryotes, unlike S. cerevisiae, these loci appear not to be defined by the presence of a DNA sequence motif. Indeed, choice of replication origins in a multicellular eukaryote may vary with developmental stage and tissue type. In cell-free models of metazoan DNA replication, such as the one provided by Xenopus egg extracts, there are only limited DNA sequence specificity requirements for replication initiation (Kelly & Brown 2000; Bell & Dutta 2002; Marahrens & Stillman 1992; Cimbora & Groudine 2001; Mahbubani et al 1992, Hyrien & Mechali 1993). |
| R-HSA-4839726 | Chromatin organization | Eukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect it from damage (reviewed in Li and Reinberg, 2011; Gilbert et al, 2005; Desjarlais and Tummino, 2016). <br><br>The 'building block' of chromatin is the nucleosome. This contains ~150 bp of DNA wrapped around a histone octamer which consists of two each of the core histones H2A, H2B, H3 and H4 in a 1.65 left-handed superhelical turn (Luger et al. 1997; Andrews & Luger, 2011).<br><br>Most nucleosome assembly occurs in a coordinated fashion during DNA replication, with histone deposition occurring on newly synthesized DNA. Local changes in chromatin organization are required for transcription, DNA repair, regulation of gene expression and other processes. The accessibility of DNA is regulated by chromatin modifying enzymes that deposit post-translational epigenetic marks on histones and DNA and by ATP-dependent chromatin remodellers that use the energy of ATP to assemble, rearrange and reposition nucleosomes (reviewed in Desjarlais and Tummino, 2016; Allis and Jenuwein, 2016; Morgan and Shilatifard, 2020; Reyes et al, 2021). |
| R-HSA-3247509 | Chromatin modifying enzymes | Eukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect it from damage. Access to DNA is achieved by highly regulated local chromatin decondensation. <br><br>The 'building block' of chromatin is the nucleosome. This contains ~150 bp of DNA wrapped around a histone octamer which consists of two each of the core histones H2A, H2B, H3 and H4 in a 1.65 left-handed superhelical turn (Luger et al. 1997, Andrews & Luger 2011).<br><br>Most organisms have multiple genes encoding the major histone proteins. The replication-dependent genes for the five histone proteins are clustered together in the genome in all metazoans. Human replication-dependent histones occur in a large cluster on chromosome 6 termed HIST1, a smaller cluster HIST2 on chromosome 1q21, and a third small cluster HIST3 on chromosome 1q42 (Marzluff et al. 2002). Histone genes are named systematically according to their cluster and location within the cluster.<br><br>The 'major' histone genes are expressed primarily during the S phase of the cell cycle and code for the bulk of cellular histones. Histone variants are usually present as single-copy genes that are not restricted in their expression to S phase, contain introns and are often polyadenylated (Old & Woodland 1984). Some variants have significant differences in primary sequence and distinct biophysical characteristics that are thought to alter the properties of nucleosomes. Others localize to specific regions of the genome. Some variants can exchange with pre-existing major histones during development and differentiation, referred to as replacement histones (Kamakaka & Biggins 2005). These variants can become the predominant species in differentiated cells (Pina & Suau 1987, Wunsch et al. 1991). Histone variants may have specialized functions in regulating chromatin dynamics. <br><br>The H2A histone family has the highest sequence divergence and largest number of variants. H2A.Z and H2A.XH2A are considered 'universal variants', found in almost all organisms (Talbert & Henikoff 2010). Variants differ mostly in the C-terminus, including the docking domain, implicated in interactions with the (H3-H4)x2 tetramer within the nucleosome, and in the L1 loop, which is the interaction interface of H2A-H2B dimers (Bonisch & Hake 2012). Canonical H2A proteins are expressed almost exclusively during S-phase. There are several nearly identical variants (Marzluff et al. 2002). No functional specialization of these canonical H2A isoforms has been demonstrated (Bonisch & Hake 2012). Reversible histone modifications such as acetylation and methylation regulate transcription from genomic DNA, defining the 'readability' of genes in specific tissues (Kouzarides 2007, Marmorstein & Trievel 2009, Butler et al. 2012).<br><br>N.B. The coordinates of post-translational modifications represented here follow Reactome standardized naming, which includes the UniProt standard practice whereby coordinates refer to the translated protein before any further processing. Histone literature typically refers to coordinates of the protein after the initiating methionine has been removed; therefore the coordinates of post-translated histone residues described here are frequently +1 when compared with the literature. For more information on Reactome's standards for naming pathway events, the molecules that participate in them and representation of post-translational modifications, please refer to Naming Conventions on the Reactome Wiki or Jupe et al. 2014. |
| R-HSA-73894 | DNA Repair | DNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, environmental chemicals and radiation that damage their DNA, thus corrupting genetic information. In addition, normal cellular pH and temperature create conditions that are hostile to the integrity of DNA and its nucleotide components. DNA damage can also arise as a consequence of spontaneous errors during DNA replication. The DNA repair machinery continuously scans the genome and maintains genome integrity by removing or mending any detected damage.<p>Depending on the type of DNA damage and the cell cycle status, the DNA repair machinery utilizes several different pathways to restore the genome to its original state. When the damage and circumstances are such that the DNA cannot be repaired with absolute fidelity, the DNA repair machinery attempts to minimize the harm and patch the insulted genome well enough to ensure cell viability.<p>Accumulation of DNA alterations that are the result of cumulative DNA damage and utilization of "last resort" low fidelity DNA repair mechanisms is associated with cellular senescence, aging, and cancer. In addition, germline mutations in DNA repair genes are the underlying cause of many familial cancer syndromes, such as Fanconi anemia, xeroderma pigmentosum, Nijmegen breakage syndrome and Lynch syndrome, to name a few.<p> When the level of DNA damage exceeds the capacity of the DNA repair machinery, apoptotic cell death ensues. Actively dividing cells have a very limited time available for DNA repair and are therefore particularly sensitive to DNA damaging agents. This is the main rationale for using DNA damaging chemotherapeutic drugs to kill rapidly replicating cancer cells.<p>There are seven main pathways employed in human DNA repair: DNA damage bypass, DNA damage reversal, base excision repair, nucleotide excision repair, mismatch repair, repair of double strand breaks and repair of interstrand crosslinks (Fanconi anemia pathway). DNA repair pathways are intimately associated with other cellular processes such as DNA replication, DNA recombination, cell cycle checkpoint arrest and apoptosis.<p>The DNA damage bypass pathway does not remove the damage, but instead allows translesion DNA synthesis (TLS) using a damaged template strand. Translesion synthesis allows cells to complete DNA replication, postponing the repair until cell division is finished. DNA polymerases that participate in translesion synthesis are error-prone, frequently introducing base substitutions and/or small insertions and deletions.<p>The DNA damage reversal pathway acts on a very narrow spectrum of damaging base modifications to remove modifying groups and restore DNA bases to their original state.<p>The base excision repair (BER) pathway involves a number of DNA glycosylases that cleave a vast array of damaged bases from the DNA sugar-phosphate backbone. DNA glycosylases produce a DNA strand with an abasic site. The abasic site is processed by DNA endonucleases, DNA polymerases and DNA ligases, the choice of which depends on the cell cycle stage, the identity of the participating DNA glycosylase and the presence of any additional damage. Base excision repair yields error-free DNA molecules.<p>Mismatch repair (MMR) proteins recognize mismatched base pairs or small insertion or deletion loops during DNA replication and correct erroneous base pairing by excising mismatched nucleotides exclusively from the nascent DNA strand, leaving the template strand intact.<p>Nucleotide excision repair pathway is involved in removal of bulky lesions that cause distortion of the DNA double helix. NER proteins excise the oligonucleotide that contains the lesion from the affected DNA strand, which is followed by gap-filling DNA synthesis and ligation of the repaired DNA molecule. <p>Double strand breaks (DSBs) in the DNA can be repaired via a highly accurate homologous recombination repair (HRR) pathway, or through error-prone nonhomologous end joining (NHEJ), single strand annealing (SSA) and microhomology-mediated end joining (MMEJ) pathways. DSBs can be directly generated by some DNA damaging agents, such as X-rays and reactive oxygen species (ROS). DSBs can also be intermediates of the Fanconi anemia pathway.<p>Interstrand crosslinking (ICL) agents damage the DNA by introducing covalent bonds between two DNA strands, which disables progression of the replication fork. The Fanconi anemia proteins repair the ICLs by unhooking them from one DNA strand. TLS enables the replication fork to bypass the unhooked ICL, resulting in two replicated DNA molecules, one of which contains a DSB and triggers double strand break repair, while the sister DNA molecule contains a bulky unhooked ICL, which is removed through NER.<p>Single strand breaks (SSBs) in the DNA, generated either by DNA damaging agents or as intermediates of DNA repair pathways such as BER, are converted into DSBs if the repair is not complete prior to DNA replication. Simultaneous inhibition of DSB repair and BER through cancer mutations and anti-cancer drugs, respectively, is synthetic lethal in at least some cancer settings, and is a promising new therapeutic strategy.<p>For reviews of DNA repair pathways, please refer to Lindahl and Wood 1999 and Curtin 2012.<br> |
Human Disease Ontology
| Term ID | Term Name | Term Definition |
|---|---|---|
| MONDO:0004992 | cancer | A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. |
| MONDO:0008170 | ovarian cancer | A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. |
| MONDO:0002898 | skin cancer | A malignant neoplasm involving the zone of skin |
Human Cell Models Research Focus
DNA repair, DNA replication, chromatin structure
| Gene ID | Symbol | Name | Tier | |
|---|---|---|---|---|
| 10919 | EHMT2 | euchromatic histone lysine methyltransferase 2 | TIER3 | |
| 10498 | CARM1 | coactivator associated arginine methyltransferase 1 | TIER3 | |
| 23411 | SIRT1 | sirtuin 1 | TIER3 | |
| 10524 | KAT5 | lysine acetyltransferase 5 | TIER3 | |
| 7083 | TK1 | thymidine kinase 1 | TIER3 | |
| 9400 | RECQL5 | RecQ like helicase 5 | TIER3 | |
| 51702 | PADI3 | peptidyl arginine deiminase 3 | TIER3 | |
| 7404 | UTY | ubiquitously transcribed tetratricopeptide repeat containing, Y-linked | TIER3 | |
| 79840 | NHEJ1 | non-homologous end joining factor 1 | TIER3 | |
| 3065 | HDAC1 | histone deacetylase 1 | TIER3 | |
| 5422 | POLA1 | DNA polymerase alpha 1, catalytic subunit | TIER3 | |
| 81620 | CDT1 | chromatin licensing and DNA replication factor 1 | TIER3 | |
| 51008 | ASCC1 | activating signal cointegrator 1 complex subunit 1 | TIER3 | |
| 675 | BRCA2 | BRCA2 DNA repair associated | TIER2 | |
| 29980 | DONSON | DNA replication fork stabilization factor DONSON | TIER3 | |
| 51507 | RTF2 | replication termination factor 2 | TIER3 | |
| 51750 | RTEL1 | regulator of telomere elongation helicase 1 | TIER3 | |
| 3066 | HDAC2 | histone deacetylase 2 | TIER3 | |
| 2237 | FEN1 | flap structure-specific endonuclease 1 | TIER3 | |
| 8841 | HDAC3 | histone deacetylase 3 | TIER3 | |
| 91603 | ZNF830 | zinc finger protein 830 | TIER3 | |
| 79728 | PALB2 | partner and localizer of BRCA2 | TIER3 | |
| 51659 | GINS2 | GINS complex subunit 2 | TIER2 | |
| 5591 | PRKDC | protein kinase, DNA-activated, catalytic subunit | TIER3 | |
| 64754 | SMYD3 | SET and MYND domain containing 3 | TIER3 | |
| 84444 | DOT1L | DOT1 like histone lysine methyltransferase | TIER3 | |
| 3981 | LIG4 | DNA ligase 4 | TIER3 | |
| 11240 | PADI2 | peptidyl arginine deiminase 2 | TIER3 | |
| 2033 | EP300 | EP300 lysine acetyltransferase | TIER3 | |
| 4172 | MCM3 | minichromosome maintenance complex component 3 | TIER3 | |
| 253714 | MMS22L | MMS22 like, DNA repair protein | TIER2 | |
| 63978 | PRDM14 | PR/SET domain 14 | TIER3 | |
| 5928 | RBBP4 | RB binding protein 4, chromatin remodeling factor | TIER3 | |
| 6119 | RPA3 | replication protein A3 | TIER2 | |
| 55274 | PHF10 | PHD finger protein 10 | TIER3 | |
| 4175 | MCM6 | minichromosome maintenance complex component 6 | TIER3 | |
| 22933 | SIRT2 | sirtuin 2 | TIER3 | |
| 7403 | KDM6A | lysine demethylase 6A | TIER3 | |
| 79915 | ATAD5 | ATPase family AAA domain containing 5 | TIER3 | |
| 54554 | WDR5B | WD repeat domain 5B | TIER3 | |
| 4678 | NASP | nuclear autoantigenic sperm protein | TIER3 | |
| 51317 | PHF21A | PHD finger protein 21A | TIER3 | |
| 64785 | GINS3 | GINS complex subunit 3 | TIER2 | |
| 11091 | WDR5 | WD repeat domain 5 | TIER3 | |
| 7520 | XRCC5 | X-ray repair cross complementing 5 | TIER3 | |
| 9837 | GINS1 | GINS complex subunit 1 | TIER2 | |
| 51547 | SIRT7 | sirtuin 7 | TIER3 | |
| 7994 | KAT6A | lysine acetyltransferase 6A | TIER3 | |
| 51200 | CPA4 | carboxypeptidase A4 | TIER3 | |
| 1763 | DNA2 | DNA replication helicase/nuclease 2 | TIER3 | |
| 9070 | ASH2L | ASH2 like, histone lysine methyltransferase complex subunit | TIER3 | |
| 64421 | DCLRE1C | DNA cross-link repair 1C | TIER3 | |
| 286205 | SCAI | suppressor of cancer cell invasion | TIER2 | |
| 4796 | TONSL | tonsoku like, DNA repair protein | TIER2 | |
| 2648 | KAT2A | lysine acetyltransferase 2A | TIER3 | |
| 5976 | UPF1 | UPF1 RNA helicase and ATPase | TIER3 | |
| 4171 | MCM2 | minichromosome maintenance complex component 2 | TIER3 | |
| 7486 | WRN | WRN RecQ like helicase | TIER3 | |
| 23028 | KDM1A | lysine demethylase 1A | TIER3 | |
| 55869 | HDAC8 | histone deacetylase 8 | TIER3 | |
| 286257 | PAXX | PAXX non-homologous end joining factor | TIER3 | |
| 79885 | HDAC11 | histone deacetylase 11 | TIER3 | |
| 10036 | CHAF1A | chromatin assembly factor 1 subunit A | TIER3 | |
| 51053 | GMNN | geminin DNA replication inhibitor | TIER3 | |
| 29935 | RPA4 | replication protein A4 | TIER3 | |
| 23409 | SIRT4 | sirtuin 4 | TIER3 | |
| 10973 | ASCC3 | activating signal cointegrator 1 complex subunit 3 | TIER3 | |
| 5111 | PCNA | proliferating cell nuclear antigen | TIER3 | |
| 672 | BRCA1 | BRCA1 DNA repair associated | TIER2 | |
| 56950 | SMYD2 | SET and MYND domain containing 2 | TIER3 | |
| 23522 | KAT6B | lysine acetyltransferase 6B | TIER3 | |
| 11143 | KAT7 | lysine acetyltransferase 7 | TIER3 | |
| 23569 | PADI4 | peptidyl arginine deiminase 4 | TIER3 | |
| 353238 | PADI6 | peptidyl arginine deiminase 6 | TIER3 | |
| 9212 | AURKB | aurora kinase B | TIER3 | |
| 23135 | KDM6B | lysine demethylase 6B | TIER3 | |
| 84164 | ASCC2 | activating signal cointegrator 1 complex subunit 2 | TIER3 | |
| 55215 | FANCI | FA complementation group I | TIER3 | |
| 91419 | ATP23 | ATP23 metallopeptidase and ATP synthase assembly factor homolog | TIER3 | |
| 8318 | CDC45 | cell division cycle 45 | TIER3 | |
| 6795 | AURKC | aurora kinase C | TIER3 | |
| 6118 | RPA2 | replication protein A2 | TIER2 | |
| 5888 | RAD51 | RAD51 recombinase | TIER3 | |
| 2547 | XRCC6 | X-ray repair cross complementing 6 | TIER3 | |
| 29943 | PADI1 | peptidyl arginine deiminase 1 | TIER3 | |
| 55723 | ASF1B | anti-silencing function 1B histone chaperone | TIER3 | |
| 641 | BLM | BLM RecQ like helicase | TIER3 | |
| 25842 | ASF1A | anti-silencing function 1A histone chaperone | TIER3 | |
| 2177 | FANCD2 | FA complementation group D2 | TIER3 | |
| 8208 | CHAF1B | chromatin assembly factor 1 subunit B | TIER3 | |
| 10013 | HDAC6 | histone deacetylase 6 | TIER3 | |
| 7158 | TP53BP1 | tumor protein p53 binding protein 1 | TIER3 | |
| 7518 | XRCC4 | X-ray repair cross complementing 4 | TIER3 | |
| 150572 | SMYD1 | SET and MYND domain containing 1 | TIER3 | |
| 84296 | GINS4 | GINS complex subunit 4 | TIER2 | |
| 8850 | KAT2B | lysine acetyltransferase 2B | TIER3 | |
| 1387 | CREBBP | CREB binding lysine acetyltransferase | TIER3 | |
| 23186 | RCOR1 | REST corepressor 1 | TIER3 | |
| 6117 | RPA1 | replication protein A1 | TIER2 | |
| 3978 | LIG1 | DNA ligase 1 | TIER3 | |
| 4173 | MCM4 | minichromosome maintenance complex component 4 | TIER3 | |
| 84148 | KAT8 | lysine acetyltransferase 8 | TIER3 | |
| 472 | ATM | ATM serine/threonine kinase | TIER3 | |
| Term | Name | Aspect | Overlap | Size | |
|---|---|---|---|---|---|
| GO:0006335 | DNA replication-dependent chromatin assembly | BP | 0 | 7 | |
| GO:0033260 | nuclear DNA replication | BP | 2 | 27 | |
| GO:0016570 | obsolete histone modification | BP | 0 | 0 | |
| GO:1990391 | DNA repair complex | CC | 2 | 23 |
Budding Yeast Research Focus
DNA replication, DNA repair, chromatin structure, histone modifications
| Gene ID | Symbol | Name | Tier | |
|---|---|---|---|---|
| 852265 | FUS3 | mitogen-activated serine/threonine-protein kinase FUS3 | TIER3 | |
| 855515 | RTT106 | Rtt106p | TIER3 | |
| 853315 | SPT10 | Spt10p | TIER3 | |
| 854851 | MGA2 | Mga2p | TIER3 | |
| 851905 | SUM1 | Sum1p | TIER3 | |
| 852673 | MCM6 | MCM DNA helicase complex subunit MCM6 | TIER2 | |
| 851623 | DBF4 | protein serine/threonine kinase activating protein DBF4 | TIER3 | |
| 856604 | RIX1 | Rix1p | TIER3 | |
| 856361 | RIM4 | Rim4p | TIER3 | |
| 851163 | SIR3 | chromatin-silencing protein SIR3 | TIER3 | |
| 852955 | SPT4 | transcription elongation factor SPT4 | TIER3 | |
| 854226 | SLD7 | Sld7p | TIER3 | |
| 850963 | HSP60 | chaperone ATPase HSP60 | TIER3 | |
| 856426 | RRM3 | DNA helicase | TIER3 | |
| 1466431 | MHF2 | Mhf2p | TIER3 | |
| 852100 | SLD5 | DNA replication protein SLD5 | TIER2 | |
| 855328 | YKU70 | ATP-dependent DNA helicase YKU70 | TIER3 | |
| 856569 | DNA2 | bifunctional ATP-dependent DNA helicase/ssDNA endodeoxyribonuclease DNA2 | TIER3 | |
| 851115 | BDF1 | chromatin-binding protein BDF1 | TIER3 | |
| 853957 | NUP133 | Nup133p | TIER3 | |
| 852395 | MMS4 | Mms4p | TIER3 | |
| 852348 | MUM2 | Mum2p | TIER3 | |
| 852578 | RIF1 | DNA-binding protein RIF1 | TIER3 | |
| 852834 | RPT6 | proteasome regulatory particle base subunit RPT6 | TIER3 | |
| 851810 | HTB1 | histone H2B | TIER3 | |
| 855841 | RVB2 | RuvB family ATP-dependent DNA helicase reptin | TIER3 | |
| 850977 | YCS4 | condensin subunit YCS4 | TIER3 | |
| 855060 | MCM1 | transcription factor MCM1 | TIER3 | |
| 851771 | RVB1 | RuvB family ATP-dependent DNA helicase pontin | TIER3 | |
| 852283 | HTA2 | histone H2A | TIER3 | |
| 854869 | CAC2 | Cac2p | TIER2 | |
| 851545 | CDC7 | serine/threonine protein kinase CDC7 | TIER3 | |
| 851263 | NUP60 | FG-nucleoporin NUP60 | TIER3 | |
| 853836 | IXR1 | DNA-binding transcription repressor IXR1 | TIER3 | |
| 852352 | ORC2 | origin recognition complex subunit 2 | TIER3 | |
| 852582 | PAF1 | Paf1p | TIER3 | |
| 854656 | MCM10 | Mcm10p | TIER3 | |
| 850430 | RAD18 | E3 ubiquitin-protein ligase RAD18 | TIER3 | |
| 851441 | NUP84 | Nup84p | TIER3 | |
| 854999 | SPT5 | transcription elongation factor SPT5 | TIER3 | |
| 853003 | CLB6 | B-type cyclin CLB6 | TIER3 | |
| 853327 | ASF1 | nucleosome assembly factor ASF1 | TIER1 | |
| 853353 | SRS2 | DNA helicase SRS2 | TIER3 | |
| 851266 | RFA1 | replication factor A subunit protein RFA1 | TIER3 | |
| 856052 | LGE1 | Lge1p | TIER3 | |
| 850793 | CDC45 | DNA replication initiation factor CDC45 | TIER2 | |
| 854941 | PIF1 | DNA helicase PIF1 | TIER3 | |
| 851457 | DUN1 | serine/threonine protein kinase DUN1 | TIER3 | |
| 852468 | NPL4 | nuclear protein localization protein 4 | TIER3 | |
| 854247 | DIA2 | DNA-binding SCF ubiquitin ligase subunit DIA2 | TIER1 | |
| 851431 | CDC48 | AAA family ATPase CDC48 | TIER3 | |
| 853748 | ABF1 | DNA-binding protein ABF1 | TIER3 | |
| 856924 | BMH1 | 14-3-3 family protein BMH1 | TIER3 | |
| 855067 | CSM3 | Csm3p | TIER3 | |
| 852494 | MSI1 | Msi1p | TIER2 | |
| 856130 | MCM4 | MCM DNA helicase complex subunit MCM4 | TIER2 | |
| 851214 | FUN30 | DNA-dependent ATPase FUN30 | TIER3 | |
| 854290 | LEO1 | Paf1-complex subunit LEO1 | TIER3 | |
| 853266 | RFA3 | Rfa3p | TIER3 | |
| 855505 | RAP1 | DNA-binding transcription factor RAP1 | TIER3 | |
| 854086 | HST1 | histone deacetylase HST1 | TIER3 | |
| 850719 | RAD5 | DNA helicase RAD5 | TIER3 | |
| 852294 | HHF1 | histone H4 | TIER3 | |
| 852433 | MEC1 | protein kinase MEC1 | TIER1 | |
| 852728 | INO80 | chromatin-remodeling ATPase INO80 | TIER3 | |
| 852702 | XRN1 | chromatin-binding exonuclease XRN1 | TIER3 | |
| 853752 | SLD2 | Sld2p | TIER3 | |
| 855701 | HHF2 | histone H4 | TIER3 | |
| 855228 | SGS1 | ATP-dependent DNA helicase SGS1 | TIER3 | |
| 851965 | ESC2 | Esc2p | TIER3 | |
| 854243 | SKI7 | Ski7p | TIER3 | |
| 852577 | CHK1 | serine/threonine protein kinase CHK1 | TIER3 | |
| 856291 | ORC4 | origin recognition complex subunit 4 | TIER3 | |
| 852295 | HHT1 | histone H3 | TIER3 | |
| 854933 | POB3 | FACT complex subunit POB3 | TIER3 | |
| 851071 | RSC2 | Rsc2p | TIER2 | |
| 852607 | RTF1 | RNA polymerase-associated protein | TIER3 | |
| 854156 | TOP1 | DNA topoisomerase 1 | TIER3 | |
| 854937 | ORC1 | origin recognition complex subunit 1 | TIER3 | |
| 851136 | CDC73 | Cdc73p | TIER3 | |
| 854976 | RAD52 | recombinase RAD52 | TIER3 | |
| 855501 | ADE12 | adenylosuccinate synthase | TIER3 | |
| 850980 | MCM5 | MCM DNA helicase complex subunit MCM5 | TIER3 | |
| 855731 | DOM34 | ribosome dissociation factor DOM34 | TIER3 | |
| 854091 | CRT10 | Crt10p | TIER3 | |
| 851557 | RPT2 | proteasome regulatory particle base subunit RPT2 | TIER3 | |
| 851813 | SIR4 | chromatin-silencing protein SIR4 | TIER3 | |
| 853848 | SPT23 | Spt23p | TIER3 | |
| 856680 | MCM3 | MCM DNA helicase complex subunit MCM3 | TIER3 | |
| 855656 | FKH2 | forkhead family transcription factor FKH2 | TIER3 | |
| 851330 | ASF2 | Asf2p | TIER3 | |
| 856129 | RLF2 | Rlf2p | TIER2 | |
| 851994 | MUS81 | Mus81p | TIER3 | |
| 851048 | NUP2 | nucleoporin NUP2 | TIER3 | |
| 855708 | FAP1 | Fap1p | TIER3 | |
| 854363 | ULS1 | translocase ULS1 | TIER3 | |
| 851803 | RAD9 | chromatin-binding protein RAD9 | TIER2 | |
| 853365 | SCP160 | Scp160p | TIER3 | |
| 854645 | SMU2 | Smu2p | TIER3 | |
| 855157 | SAS2 | histone acetyltransferase | TIER2 | |
| 855621 | POL1 | DNA-directed DNA polymerase alpha catalytic subunit POL1 | TIER2 | |
| 852050 | DOT1 | histone methyltransferase DOT1 | TIER2 | |
| 856862 | RSP5 | NEDD4 family E3 ubiquitin-protein ligase | TIER3 | |
| 851885 | HRQ1 | ATP-dependent 3'-5' DNA helicase | TIER3 | |
| 854150 | HTZ1 | histone H2AZ | TIER3 | |
| 854675 | FKH1 | forkhead family transcription factor FKH1 | TIER3 | |
| 851859 | HEL2 | E3 ubiquitin-protein ligase HEL2 | TIER3 | |
| 855543 | RPS3 | 40S ribosomal protein uS3 RPS3 | TIER3 | |
| 850297 | MRC1 | chromatin-modulating protein MRC1 | TIER2 | |
| 856237 | CLB5 | B-type cyclin CLB5 | TIER3 | |
| 852228 | SAS3 | histone acetyltransferase | TIER3 | |
| 854020 | CTR9 | Ctr9p | TIER3 | |
| 854315 | ELG1 | Elg1p | TIER3 | |
| 855404 | RFA2 | Rfa2p | TIER3 | |
| 853986 | HRT1 | SCF ubiquitin ligase complex subunit HRT1 | TIER3 | |
| 853244 | CDC6 | AAA family ATPase CDC6 | TIER3 | |
| 853500 | POL32 | DNA polymerase delta subunit POL32 | TIER3 | |
| 850658 | RTT109 | H3 histone acetyltransferase RTT109 | TIER2 | |
| 855700 | HHT2 | histone H3 | TIER3 | |
| 854138 | DIS3 | exosome catalytic subunit DIS3 | TIER3 | |
| 854663 | SSL2 | TFIIH/NER complex ATPase/helicase subunit SSL2 | TIER3 | |
| 852641 | HFM1 | DNA helicase | TIER3 | |
| 852385 | POL30 | proliferating cell nuclear antigen | TIER3 | |
| 855587 | FPR1 | peptidylprolyl isomerase FPR1 | TIER3 | |
| 854190 | HST3 | NAD-dependent histone deacetylase HST3 | TIER2 | |
| 856841 | RTT105 | Rtt105p | TIER3 | |
| 856559 | RTT107 | Rtt107p | TIER3 | |
| 855448 | TOF1 | Tof1p | TIER3 | |
| 856485 | IPI1 | Ipi1p | TIER3 | |
| 851647 | PPH3 | phosphoprotein phosphatase PP4 catalytic subunit PPH3 | TIER3 | |
| 850688 | NOC3 | Noc3p | TIER3 | |
| 851391 | CDC9 | DNA ligase (ATP) CDC9 | TIER3 | |
| 853504 | TAH11 | Tah11p | TIER3 | |
| 851812 | ADK1 | adenylate kinase ADK1 | TIER3 | |
| 855539 | IPI3 | chromatin-binding/pre-rRNA-processing protein IPI3 | TIER3 | |
| 853400 | RTT101 | cullin RTT101 | TIER1 | |
| 851676 | BMH2 | 14-3-3 family protein BMH2 | TIER3 | |
| 855976 | HHO1 | histone H1 | TIER3 | |
| 852457 | CDC28 | cyclin-dependent serine/threonine-protein kinase CDC28 | TIER3 | |
| 855950 | RAD53 | serine/threonine/tyrosine protein kinase RAD53 | TIER1 | |
| 854019 | PSF3 | DNA replication protein PSF3 | TIER3 | |
| 851485 | BRE1 | E3 ubiquitin-protein ligase BRE1 | TIER3 | |
| 852765 | SLD3 | Sld3p | TIER3 | |
| 855143 | ASC1 | 40S ribosomal protein RACK1 ASC1 | TIER3 | |
| 855503 | MGS1 | ssDNA-dependent ATPase MGS1 | TIER3 | |
| 852665 | SPT16 | chromatin-remodeling protein SPT16 | TIER3 | |
| 851884 | RTT103 | Rtt103p | TIER3 | |
| 850656 | ORC3 | origin recognition complex subunit 3 | TIER3 | |
| 851424 | CDC53 | cullin CDC53 | TIER3 | |
| 855264 | MRE11 | MRX complex nuclease subunit | TIER3 | |
| 852947 | RSC1 | RSC subunit protein RSC1 | TIER2 | |
| 854058 | HMI1 | ATP-dependent 3'-5' DNA helicase | TIER3 | |
| 855520 | PSY2 | Psy2p | TIER3 | |
| 850808 | CLF1 | Clf1p | TIER3 | |
| 856518 | ORC6 | origin recognition complex subunit 6 | TIER3 | |
| 853355 | DPB11 | protein kinase activating protein DPB11 | TIER3 | |
| 851576 | PSF1 | DNA replication protein PSF1 | TIER2 | |
| 854063 | MSH2 | mismatch repair ATPase MSH2 | TIER3 | |
| 854818 | MPH1 | 3'-5' DNA helicase | TIER3 | |
| 852284 | HTB2 | histone H2B | TIER3 | |
| 851772 | HST4 | NAD-dependent histone deacetylase HST4 | TIER2 | |
| 852258 | MCM2 | MCM DNA helicase complex subunit MCM2 | TIER2 | |
| 852822 | RAD6 | E2 ubiquitin-conjugating protein RAD6 | TIER3 | |
| 851811 | HTA1 | histone H2A | TIER3 | |
| 853373 | PSF2 | DNA replication protein PSF2 | TIER2 | |
| 851030 | MMS22 | Mms22p | TIER1 | |
| 851542 | RPN4 | stress-regulated transcription factor RPN4 | TIER3 | |
| 852579 | PPS1 | tyrosine/serine/threonine protein phosphatase PPS1 | TIER3 | |
| 856519 | SET1 | histone methyltransferase SET1 | TIER3 | |
| 853959 | HBS1 | ribosome dissociation factor GTPase HBS1 | TIER3 | |
| 852501 | MCM7 | DNA replication licensing factor MCM7 | TIER3 | |
| 856293 | MMS1 | Mms1p | TIER1 | |
| 856254 | CTF4 | chromatin-binding protein CTF4 | TIER1 | |
| 854067 | MHF1 | Mhf1p | TIER3 | |
| 851520 | SIR2 | NAD-dependent histone deacetylase SIR2 | TIER3 | |
| 855460 | ORC5 | origin recognition complex subunit 5 | TIER3 | |
| 855104 | NAM7 | ATP-dependent RNA helicase NAM7 | TIER3 | |
| 856870 | GLC7 | type 1 serine/threonine-protein phosphatase catalytic subunit GLC7 | TIER3 | |
| 855217 | SPT21 | Spt21p | TIER3 | |
| 850826 | SLX4 | Slx4p | TIER3 | |
| 851928 | SKP1 | SCF ubiquitin ligase subunit SKP1 | TIER3 | |
| 851147 | MAG2 | RING-type E3 ubiquitin transferase MAG2 | TIER3 | |
| 852683 | IME4 | mRNA (N6-adenosine)-methyltransferase | TIER3 | |
| 856831 | RAD51 | recombinase RAD51 | TIER3 | |
| 852939 | UFD1 | polyubiquitin-binding protein UFD1 | TIER3 | |
| 853976 | SIR1 | Sir1p | TIER3 | |
| Term | Name | Aspect | Overlap | Size | |
|---|---|---|---|---|---|
| GO:0097373 | MCM core complex | CC | 2 | 3 | |
| GO:0006268 | obsolete DNA unwinding involved in DNA replication | BP | 0 | 0 | |
| GO:0033260 | nuclear DNA replication | BP | 7 | 38 | |
| GO:0031298 | replication fork protection complex | CC | 4 | 11 | |
| GO:0042555 | MCM complex | CC | 3 | 6 | |
| GO:0009378 | four-way junction helicase activity | MF | 2 | 6 | |
| GO:0043138 | 3'-5' DNA helicase activity | MF | 3 | 13 | |
| GO:0070651 | nonfunctional rRNA decay | BP | 2 | 21 | |
| GO:0031297 | replication fork processing | BP | 4 | 16 | |
| GO:0006282 | regulation of DNA repair | BP | 1 | 18 | |
| GO:0035361 | Cul8-RING ubiquitin ligase complex | CC | 3 | 5 | |
| GO:0005656 | nuclear pre-replicative complex | CC | 3 | 16 | |
| GO:0006267 | pre-replicative complex assembly involved in nuclear cell cycle DNA replication | BP | 3 | 19 | |
| GO:0003688 | DNA replication origin binding | MF | 7 | 38 | |
| GO:0030466 | silent mating-type cassette heterochromatin formation | BP | 4 | 42 | |
| GO:0031261 | DNA replication preinitiation complex | CC | 7 | 22 | |
| GO:0000727 | double-strand break repair via break-induced replication | BP | 8 | 26 | |
| GO:0006335 | DNA replication-dependent chromatin assembly | BP | 4 | 5 | |
| GO:0010526 | transposable element silencing | BP | 3 | 8 | |
| GO:0017116 | single-stranded DNA helicase activity | MF | 3 | 10 |
Publications
| PubMed ID | Title |
|---|---|
| 18671409 | |
| 20601951 | |
| 21256037 | |
| 15902491 | |
| 12960968 | |
| 19471124 | |
| 16823611 | |
| 16487697 | |
| 22025679 | |
| 18662540 | |
| 34353863 | Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. |