Gene Symbol: KNL1
Description: kinetochore scaffold 1
Alias: AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105, kinetochore scaffold 1, ALL1-fused gene from chromosome 15q14 protein, blinkin, bub-linking kinetochore protein, cancer susceptibility candidate 5, cancer susceptibility candidate gene 5 protein, cancer/testis antigen 29, kinetochore null 1 homolog, kinetochore-null protein 1, microcephaly, primary autosomal recessive 4, protein phosphatase 1, regulatory subunit 55
Species: human
Products:     KNL1

Top Publications

  1. Bolanos Garcia V, Lischetti T, Matak Vinkovic D, Cota E, Simpson P, Chirgadze D, et al. Structure of a Blinkin-BUBR1 complex reveals an interaction crucial for kinetochore-mitotic checkpoint regulation via an unanticipated binding Site. Structure. 2011;19:1691-700 pubmed publisher
    ..We also show that substitution of several BUBR1 residues engaged in binding Blinkin leads to defects in the SAC, thus providing the first molecular details of the recognition mechanism underlying kinetochore-SAC signaling. ..
  2. Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M. A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. Nat Cell Biol. 2004;6:1135-41 pubmed
    ..Double HP1 RNAi abolishes kinetochore localization of hMis12 and DC8. Therefore, centromeric HP1 may be the base to anchor the hMis12 core complex that is enriched with coiled coils and extends to outer Zwint-1 during mitosis. ..
  3. Cheeseman I, Hori T, Fukagawa T, Desai A. KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates. Mol Biol Cell. 2008;19:587-94 pubmed
    ..Here, we demonstrate that the vertebrate KNL1 counterpart is essential for chromosome segregation and is required to localize a subset of outer kinetochore ..
  4. Kiyomitsu T, Murakami H, Yanagida M. Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1. Mol Cell Biol. 2011;31:998-1011 pubmed publisher
    ..Human blinkin/human Spc105 (hSpc105)/hKNL1 was identified originally as a mixed-lineage leukemia (MLL) fusion partner and later as a kinetochore ..
  5. Krenn V, Overlack K, Primorac I, van Gerwen S, Musacchio A. KI motifs of human Knl1 enhance assembly of comprehensive spindle checkpoint complexes around MELT repeats. Curr Biol. 2014;24:29-39 pubmed publisher
    ..Two types of motifs in the KMN subunit Knl1 interact with SAC proteins...
  6. Bolanos Garcia V, Kiyomitsu T, D Arcy S, Chirgadze D, Grossmann J, Matak Vinkovic D, et al. The crystal structure of the N-terminal region of BUB1 provides insight into the mechanism of BUB1 recruitment to kinetochores. Structure. 2009;17:105-16 pubmed publisher
    ..The structure provides insight into the molecular basis of Blinkin-specific recognition by BUB1 and, on a broader perspective, of the mechanism that mediates kinetochore localization of BUB1 in checkpoint-activated cells. ..
  7. Zhang G, Lischetti T, Nilsson J. A minimal number of MELT repeats supports all the functions of KNL1 in chromosome segregation. J Cell Sci. 2014;127:871-84 pubmed publisher
    ..The outer kinetochore protein KNL1 (also known as CASC5, Blinkin and AF15Q14) is the receptor for Bub proteins, but the exact nature of the functional binding sites on KNL1 are yet to be ..
  8. Yamagishi Y, Yang C, Tanno Y, Watanabe Y. MPS1/Mph1 phosphorylates the kinetochore protein KNL1/Spc7 to recruit SAC components. Nat Cell Biol. 2012;14:746-52 pubmed publisher
    ..We show that fission yeast Mph1 (MPS1 homologue) phosphorylates the kinetochore protein Spc7 (KNL1/Blinkin homologue) at the MELT repeat sequences...
  9. Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, et al. AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14). Oncogene. 2000;19:4446-50 pubmed
    ..Here, we report the cloning of a novel MLL partner, AF15q14, at chromosome 15q14. In this translocation, the breakpoint occurred in exon 8 of MLL and exon 10 of AF15q14...

More Information

Publications108 found, 100 shown here

  1. Liu D, Vleugel M, Backer C, Hori T, Fukagawa T, Cheeseman I, et al. Regulated targeting of protein phosphatase 1 to the outer kinetochore by KNL1 opposes Aurora B kinase. J Cell Biol. 2010;188:809-20 pubmed publisher
    ..Here, we demonstrate that a conserved motif in the kinetochore protein KNL1 directly interacts with and targets protein phosphatase 1 (PP1) to the outer kinetochore...
  2. Krenn V, Wehenkel A, Li X, Santaguida S, Musacchio A. Structural analysis reveals features of the spindle checkpoint kinase Bub1-kinetochore subunit Knl1 interaction. J Cell Biol. 2012;196:451-67 pubmed publisher
    ..of the tetratricopeptide repeats (TPRs) of Bub1 and BubR1 with two KI motifs in the outer kinetochore protein Knl1. We determined the crystal structure of the Bub1 TPRs in complex with the cognate Knl1 KI motif and compared it ..
  3. Kiyomitsu T, Obuse C, Yanagida M. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. Dev Cell. 2007;13:663-76 pubmed
    ..We show that a human kinetochore oncoprotein, AF15q14/blinkin, a member of the Spc105/Spc7/KNL-1 family, directly links spindle checkpoint proteins BubR1 and Bub1 to ..
  4. Cheeseman I, Niessen S, Anderson S, Hyndman F, Yates J, Oegema K, et al. A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension. Genes Dev. 2004;18:2255-68 pubmed
    ..Thus, this protein network is a conserved constituent of the outer kinetochore, and the functions defined by our analysis in C. elegans are likely to be widely relevant. ..
  5. D Arcy S, Davies O, Blundell T, Bolanos Garcia V. Defining the molecular basis of BubR1 kinetochore interactions and APC/C-CDC20 inhibition. J Biol Chem. 2010;285:14764-76 pubmed publisher
    ..Our studies pave the way for future structure-directed engineering aimed at dissecting the roles of kinetochore-bound and other pools of BubR1 in vivo. ..
  6. Prentice B, Hart N, Phillips N, Haliyur R, Judd A, Armandala R, et al. Imaging mass spectrometry enables molecular profiling of mouse and human pancreatic tissue. Diabetologia. 2019;: pubmed publisher
    ..We also observed the localisation of specific GM3 ganglioside lipids [GM3(d34:1), GM3(d36:1), GM3(d38:1) and GM3(d40:1)] within murine islet cells that were correlated with a higher level of GM3 synthase as verified by ..
  7. Rodriguez Rodriguez J, Lewis C, McKinley K, Sikirzhytski V, Corona J, Maciejowski J, et al. Distinct Roles of RZZ and Bub1-KNL1 in Mitotic Checkpoint Signaling and Kinetochore Expansion. Curr Biol. 2018;28:3422-3429.e5 pubmed publisher
    ..We used genome editing to eliminate Bub1, KNL1, and the Rod-Zw10-Zwilch (RZZ) complex in human cells...
  8. Cheerambathur D, Prevo B, Chow T, Hattersley N, Wang S, Zhao Z, et al. The Kinetochore-Microtubule Coupling Machinery Is Repurposed in Sensory Nervous System Morphogenesis. Dev Cell. 2019;: pubmed publisher
    ..Here, we report that the evolutionarily ancient kinetochore-microtubule coupling machine, the KMN (Knl1/Mis12/Ndc80-complex) network, plays a critical role in neuronal morphogenesis...
  9. Omer Javed A, Li Y, Muffat J, Su K, Cohen M, Lungjangwa T, et al. Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype. Cell Rep. 2018;25:368-382.e5 pubmed publisher vitro differentiation of human embryonic stem cells to monitor the effect of a point mutation in kinetochore null protein 1 (KNL1; CASC5), identified in microcephaly patients, during in vitro brain development...
  10. Wu C, Chen M, Zhang Q, Yu L, Zhu J, Gao X. Genomic and GeneChip expression profiling reveals the inhibitory effects of Amorphophalli Rhizoma in TNBC cells. J Ethnopharmacol. 2019;235:206-218 pubmed publisher
    ..Attenuation of KNL1, OLFML2A, RTKN2 and SGO1 gene expression by Amorphophalli Rhizoma significantly induced cell cycle arrest and ..
  11. Song B, Du J, Song D, Ren J, Feng Y. Dysregulation of NCAPG, KNL1, miR-148a-3p, miR-193b-3p, and miR-1179 may contribute to the progression of gastric cancer. Biol Res. 2018;51:44 pubmed publisher
    ..most DEGs, were highlighted in the DE-miRNA-DEG regulatory network, as well as hsa-miR-1179, which targeted KNL1, was newly predicted to be associated with GC...
  12. Wu M, Chang Y, Hu H, Mu R, Zhang Y, Qin X, et al. LUBAC controls chromosome alignment by targeting CENP-E to attached kinetochores. Nat Commun. 2019;10:273 pubmed publisher
    ..b>KNL1 acts as a receptor of linear ubiquitin chains to anchor CENP-E at attached kinetochores in prometaphase and ..
  13. Cao L, Cai G, Chang C, Miao A, Yu X, Yang Z, et al. Diastolic Dysfunction Occurs Early in HER2-Positive Breast Cancer Patients Treated Concurrently With Radiation Therapy and Trastuzumab. Oncologist. 2015;20:605-14 pubmed publisher
    ..In patients receiving left-sided RT alone, 12 of 61 patients with normal baseline LVDF developed LVDD. Dmean, D15-D40, D60-D70, and V3-V10 of the LV were significantly higher in patients who developed LVDD after concurrent ..
  14. Shepperd L, Meadows J, Sochaj A, Lancaster T, Zou J, Buttrick G, et al. Phosphodependent recruitment of Bub1 and Bub3 to Spc7/KNL1 by Mph1 kinase maintains the spindle checkpoint. Curr Biol. 2012;22:891-9 pubmed publisher
    ..We, and others, recently showed that association of PP1 to the Spc7/Spc105/KNL1 family of kinetochore proteins is necessary to stabilize microtubule-kinetochore attachments and ..
  15. Faheem M, Naseer M, Rasool M, Chaudhary A, Kumosani T, Ilyas A, et al. Molecular genetics of human primary microcephaly: an overview. BMC Med Genomics. 2015;8 Suppl 1:S4 pubmed publisher date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6...
  16. Yang H, Asakawa H, Haraguchi T, Hiraoka Y. Nup132 modulates meiotic spindle attachment in fission yeast by regulating kinetochore assembly. J Cell Biol. 2015;211:295-308 pubmed publisher
    ..In the fission yeast Schizosaccharomyces pombe, the KNL1-Spc7-Mis12-Nuf2 (KMN) complex, which constitutes the outer kinetochore, is disassembled during meiotic prophase and ..
  17. Chen C, Whitney I, Banerjee A, Sacristan C, Sekhri P, Kern D, et al. Ectopic Activation of the Spindle Assembly Checkpoint Signaling Cascade Reveals Its Biochemical Design. Curr Biol. 2019;29:104-119.e10 pubmed publisher
    ..The eSAC stimulates SAC signaling by artificially dimerizing Mps1 kinase domain and a cytosolic KNL1 phosphodomain, the kinetochore signaling scaffold...
  18. Samejima I, Spanos C, Alves F, Hori T, Perpelescu M, Zou J, et al. Whole-proteome genetic analysis of dependencies in assembly of a vertebrate kinetochore. J Cell Biol. 2015;211:1141-56 pubmed publisher
    ..Ndc80 associated with CENP-C forms the KMN (Knl1, Mis12, Ndc80) network and may be the microtubule-binding "workhorse" of the kinetochore...
  19. Currie C, Mora Santos M, Smith C, McAinsh A, Millar J. Bub1 is not essential for the checkpoint response to unattached kinetochores in diploid human cells. Curr Biol. 2018;28:R929-R930 pubmed publisher
    ..We have previously proposed that two separable pathways, composed of KNL1-Bub3-Bub1 (KBB) and Rod-Zwilch-Zw10 (RZZ), recruit Mad1-Mad2 complexes to human kinetochores to activate the SAC [2]..
  20. Bock L, Pagliuca C, Kobayashi N, Grove R, Oku Y, Shrestha K, et al. Cnn1 inhibits the interactions between the KMN complexes of the yeast kinetochore. Nat Cell Biol. 2012;14:614-24 pubmed publisher
    ..Kinetochore-spindle binding and chromosome segregation are mediated by the multi-copy KNL1(Spc105), MIS12(Mtw1) and NDC80(Ndc80) complexes that form the so-called KMN network...
  21. Ma L, Liu X, MacGibbon A, Rowan A, McJarrow P, Fong B. Lactational changes in concentration and distribution of ganglioside molecular species in human breast milk from Chinese mothers. Lipids. 2015;50:1145-54 pubmed publisher
    ..The major GM(3) and GD(3) molecular species during lactation were d40:1 and d42:1, respectively...
  22. Zhu D, Xu S, Deyanat Yazdi G, Peng S, Barnes L, Narla R, et al. Synthetic Lethal Strategy Identifies a Potent and Selective TTK and CLK1/2 Inhibitor for Treatment of Triple-Negative Breast Cancer with a Compromised G1-S Checkpoint. Mol Cancer Ther. 2018;17:1727-1738 pubmed publisher
    ..Cellular mechanism of action studies demonstrate that CC-671 potently inhibits the phosphorylation of KNL1 and SRp75, direct TTK and CLK2 substrates, respectively...
  23. Wang X, Zhuang X, Cao D, Chu Y, Yao P, Liu W, et al. Mitotic regulator SKAP forms a link between kinetochore core complex KMN and dynamic spindle microtubules. J Biol Chem. 2012;287:39380-90 pubmed publisher
    ..However, it remains elusive how kinetochore core microtubule binding activity KMN (KNL1-MIS12-NDC80) regulates microtubule plus-end dynamics...
  24. Tawada K, Iguchi H, Tanaka N, Watanabe N, Murakami S, Hasegawa S, et al. Is the canal flare index a reliable means of estimation of canal shape? Measurement of proximal femoral geometry by use of 3D models of the femur. J Orthop Sci. 2015;20:498-506 pubmed publisher
    ..width 20 mm (P20) and 10 mm proximal (P10), and 10 mm (D10), 20 mm (D20), 30 mm (D30), and 40 mm (D40) distal from the center of the lesser trochanter, and at the isthmus were measured for different angles of femoral ..
  25. Samir H, Karen A, Ashmawy T, Abo Ahmed M, El Sayed M, Watanabe G. Monitoring of embryonic and fetal losses in different breeds of goats using real-time B-mode ultrasonography. Theriogenology. 2016;85:207-15 pubmed publisher
    ..were evaluated by ultrasonography to monitor EFL during different stages of gestation (D20-23, D26-29, D33-36, D40-45, and D47-54 after breeding)...
  26. Morelli E, Mastrodonato V, Beznoussenko G, Mironov A, Tognon E, Vaccari T. An essential step of kinetochore formation controlled by the SNARE protein Snap29. EMBO J. 2016;35:2223-2237 pubmed
    ..Snap29 promotes accurate chromosome segregation by mediating the recruitment of Knl1 at the kinetochore and ensuring stable microtubule attachments...
  27. Redli P, Gasic I, Meraldi P, Nigg E, Santamaria A. The Ska complex promotes Aurora B activity to ensure chromosome biorientation. J Cell Biol. 2016;215:77-93 pubmed
    ..These defects coincide with KNL1-Mis12-Ndc80 network hypophosphorylation, reduced mitotic centromere-associated kinesin localization, and Aurora B T-..
  28. Faesen A, Musacchio A. The (phospho) needle in the (MELT) Haystack. Mol Cell. 2015;57:765-766 pubmed publisher
    ..b>Knl1, a kinetochore protein, acts as a scaffold for SAC signaling...
  29. Chung J, Zhang X, Collins B, Sper R, Gleason K, Simpson S, et al. High mobility group A2 (HMGA2) deficiency in pigs leads to dwarfism, abnormal fetal resource allocation, and cryptorchidism. Proc Natl Acad Sci U S A. 2018;115:5420-5425 pubmed publisher
    ..However, analysis of day (D) D40 and D78 pregnancies indicated that HMGA2-/- fetuses were present at the expected Mendelian ratio, ..
  30. Bajaj R, Bollen M, Peti W, Page R. KNL1 Binding to PP1 and Microtubules Is Mutually Exclusive. Structure. 2018;26:1327-1336.e4 pubmed publisher
    The kinetochore scaffold 1 (KNL1) protein coordinates the spindle assembly checkpoint (SAC), a signaling pathway that delays chromosome segregation until all sister chromatids are properly attached to spindle microtubules...
  31. Chan Y, Jeyaprakash A, Nigg E, Santamaria A. Aurora B controls kinetochore-microtubule attachments by inhibiting Ska complex-KMN network interaction. J Cell Biol. 2012;196:563-71 pubmed publisher
    The KMN network (named according to the acronym for KNL1, Mis12, and Ndc80) and the more recently identified Ska complex (Ska1-3) have been shown to mediate kinetochore (KT)-microtubule (MT) attachments...
  32. Krute C, Rice K, Bose J. VfrB Is a Key Activator of the Staphylococcus aureus SaeRS Two-Component System. J Bacteriol. 2017;199: pubmed publisher
    ..Lastly, we determined that aspartic acid residues D38 and D40, which are predicted to be key to VfrB enzymatic activity, were required for VfrB-mediated α-hemolysin production...
  33. Silva N, Lima A, Silva C, Brito D, Cutrim Junior J, Milhomem M, et al. In vitro and in vivo activity of hydrolyzed Saccharomyces cerevisiae against goat nematodes. Vet Parasitol. 2018;254:6-9 pubmed publisher
    ..The hydrolyzed yeast preparation was able to reduce FECs in treated animals from D40 to D54 (p?<?0.05), showing an average efficiency of 60%...
  34. Nasa I, Rusin S, Kettenbach A, Moorhead G. Aurora B opposes PP1 function in mitosis by phosphorylating the conserved PP1-binding RVxF motif in PP1 regulatory proteins. Sci Signal. 2018;11: pubmed publisher
    ..the phosphorylated form of the RV[S/T]F motif (RVp[S/T]F) and used it to identify known PP1 regulatory proteins (KNL1, CDCA2, and RIF1) and multiple proteins that could potentially act as PP1 binding partners (UBR5, ASPM, SEH1, and ..
  35. Eiteneuer A, Seiler J, Weith M, Beullens M, Lesage B, Krenn V, et al. Inhibitor-3 ensures bipolar mitotic spindle attachment by limiting association of SDS22 with kinetochore-bound protein phosphatase-1. EMBO J. 2014;33:2704-20 pubmed publisher
    ..of I3 does not affect the amount of PP1 at kinetochores but causes quantitative association of SDS22 with PP1 on KNL1 at the kinetochore...
  36. Rago F, Gascoigne K, Cheeseman I. Distinct organization and regulation of the outer kinetochore KMN network downstream of CENP-C and CENP-T. Curr Biol. 2015;25:671-7 pubmed publisher
    ..The KNL1/Mis12 complex/Ndc80 complex (KMN) network acts as the primary microtubule-binding interface at kinetochores [3] and ..
  37. Freitag M. The kinetochore interaction network (KIN) of ascomycetes. Mycologia. 2016;108:485-505 pubmed publisher
    ..The outer kinetochore comprises the Knl1-Mis12-Ndc80 (KMN) protein complexes that connect CCAN to spindles, accomplished by binding and stabilizing ..
  38. Zhang P, Cao S, Zou T, Han D, Liu H, Jin J, et al. Effects of dietary yeast culture on growth performance, immune response and disease resistance of gibel carp (Carassius auratus gibelio CAS Ⅲ). Fish Shellfish Immunol. 2018;82:400-407 pubmed publisher meal, D0) and three yeast culture diets (substituting 20%, 40%, 60% of the fishmeal in the basal diet, D20, D40 and D60, respectively) were formulated...
  39. Wang Q, Ye T, Chen H, Zhang X, Zhang L. Correlation between intensity modulated radiotherapy and bone marrow suppression in breast cancer. Eur Rev Med Pharmacol Sci. 2016;20:75-81 pubmed
    ..bone marrow suppression in the course of radiotherapy, the dose-volume parameters (V5, V10, V20, V30, V50, D20, D40, D60, D80, D100, Min, Max, Dmean) of the chest and rib of each patient were collected and analyzed from multiple ..
  40. Zhu S, Jing R, Yang Y, Huang Y, Wang X, Leng Y, et al. A motif from Lys216 to Lys222 in human BUB3 protein is a nuclear localization signal and critical for BUB3 function in mitotic checkpoint. J Biol Chem. 2015;290:11282-92 pubmed publisher
    ..was able to interact with BUB1, MAD2, and BubR1 but that its association with the centromeric components CENP-A and KNL1 was impaired...
  41. Soeiro V, Melo K, Alves M, Medeiros M, Grilo M, Almeida Lima J, et al. Dextran: Influence of Molecular Weight in Antioxidant Properties and Immunomodulatory Potential. Int J Mol Sci. 2016;17: pubmed publisher
    Dextrans (?-d-glucans) extracted from Leuconostoc mesenteroides, with molecular weights (MW) of 10 (D10), 40 (D40) and 147 (D147) kDa, were evaluated as antioxidant, anticoagulant and immunomodulatory drugs for the first time...
  42. Hengeveld R, Vromans M, Vleugel M, Hadders M, Lens S. Inner centromere localization of the CPC maintains centromere cohesion and allows mitotic checkpoint silencing. Nat Commun. 2017;8:15542 pubmed publisher essential for mitotic checkpoint silencing to allow spatial separation from its kinetochore substrate KNL1. Our data infer that the CPC is localized at the inner centromere to sustain centromere cohesion on bi-oriented ..
  43. Martin F, Magnier F, Berger L, Miroir J, Chautard E, Verrelle P, et al. Fractionated stereotactic radiotherapy of benign skull-base tumors: a dosimetric comparison of volumetric modulated arc therapy with Rapidarc® versus non-coplanar dynamic arcs. Radiat Oncol. 2016;11:58 pubmed publisher
    ..7 % using Rapidarc® vs. 1.4 % with dynamic arcs (p = 0.05). Rapidarc® and dynamic arcs gave, respectively, a mean D40 % of 10.5 vs. 18.1 Gy (p = 0.005) for the hippocampus and a Dmean of 25.4 vs. 35.3 Gy (p = 0...
  44. Aravamudhan P, Goldfarb A, Joglekar A. The kinetochore encodes a mechanical switch to disrupt spindle assembly checkpoint signalling. Nat Cell Biol. 2015;17:868-79 pubmed publisher
    ..which probably binds to the calponin homology domain of Ndc80, from the kinetochore substrate of Mps1, Spc105 (KNL1 orthologue). This attachment-mediated separation disrupts the phosphorylation of Spc105, and enables SAC silencing...
  45. Zhou H, Wang T, Zheng T, Teng J, Chen J. Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2. Nat Commun. 2016;7:10151 pubmed publisher
    ..Here we find that Cep57 is localized to kinetochores in human cells, and binds to Mis12, a KMN (KNL1/Mis12 complex/Ndc80 complex) network component...
  46. Yang Y, Li T, Yuan L, Ge Y, Yin F, Lee W, et al. Quantitative comparison of automatic and manual IMRT optimization for prostate cancer: the benefits of DVH prediction. J Appl Clin Med Phys. 2015;16:5204 pubmed publisher
    ..DMAX and D98% for PTV, DMAX for femoral heads, DMAX, D10cc, D25%/D17%, and D40% for bladder/rectum were compared...
  47. Khan M, Windpassinger C, Ali M, Zubair M, Gul H, Abbas S, et al. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene. J Genet. 2017;96:383-387 pubmed
    ..families with primary microcephaly have identified 15 (MCPH) causative genes that include MCPH1, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6 MFSD2A ANKLE2 and CIT (Khan et al...
  48. Tromer E, Snel B, Kops G. Widespread Recurrent Patterns of Rapid Repeat Evolution in the Kinetochore Scaffold KNL1. Genome Biol Evol. 2015;7:2383-93 pubmed publisher
    The outer kinetochore protein scaffold KNL1 is essential for error-free chromosome segregation during mitosis and meiosis. A critical feature of KNL1 is an array of repeats containing MELT-like motifs...
  49. Chmielewska A, Tang N, Toda T. The hairpin region of Ndc80 is important for the kinetochore recruitment of Mph1/MPS1 in fission yeast. Cell Cycle. 2016;15:740-7 pubmed publisher
    ..b>KNL1, a component of the outer kinetochore KMN network (KNL1/Mis12 complex/Ndc80 complex), acts as a platform for Bub1 ..
  50. Zapata Perez R, Gil Ortiz F, Martínez Moñino A, García Saura A, Juanhuix J, Sanchez Ferrer A. Structural and functional analysis of Oceanobacillus iheyensis macrodomain reveals a network of waters involved in substrate binding and catalysis. Open Biol. 2017;7: pubmed publisher
    ..In addition, a novel structural role for residue D40 is identified...
  51. Miyazaki S, Kim J, Yamagishi Y, Ishiguro T, Okada Y, Tanno Y, et al. Meikin-associated polo-like kinase specifies Bub1 distribution in meiosis I. Genes Cells. 2017;22:552-567 pubmed publisher
    ..stably with CENP-C during meiosis I, recruits Plo1 (polo-like kinase) to the kinetochores and phosphorylates Spc7 (KNL1) to accumulate Bub1...
  52. Morris Rosendahl D, Kaindl A. What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH). Mol Cell Probes. 2015;29:271-81 pubmed publisher
    ..The functions of proteins such as WDR62, CASC5, PHC1, CDK6, CENP-E, CENP-F, CEP63, ZNF335, PLK4 and TUBGPC, have been added to the complex network of critical ..
  53. Ollivier M, Wanono E, Leclercq D, Domont F, Trunet S, Dormont D, et al. Transient reduction in venous susceptibility during posterior reversible encephalopathy syndrome. J Neurol Sci. 2015;358:505-6 pubmed publisher
    ..The progressive normalization of venous signal on D10 and D40 imaging paralleled the progressive decrease of hyperperfusion on CBF images...
  54. Liu Y, Petrovic A, Rombaut P, Mosalaganti S, Keller J, Raunser S, et al. Insights from the reconstitution of the divergent outer kinetochore of Drosophila melanogaster. Open Biol. 2016;6:150236 pubmed publisher
    ..Finally, the Spc105R subunit, homologous to human Knl1/CASC5, underwent considerable sequence changes in comparison with other organisms...
  55. Mora Santos M, Hervás Aguilar A, Sewart K, Lancaster T, Meadows J, Millar J. Bub3-Bub1 Binding to Spc7/KNL1 Toggles the Spindle Checkpoint Switch by Licensing the Interaction of Bub1 with Mad1-Mad2. Curr Biol. 2016;26:2642-2650 pubmed publisher
    ..We, and others, recently showed that Mph1 (Mps1) phosphorylates multiple conserved MELT motifs in the Spc7 (Spc105/KNL1) protein to recruit Bub1, Bub3, and Mad3 (BubR1) to kinetochores [2-4]...
  56. Wan B, Lang J, Wang P, Ma C. Treatment optimization with concurrent SBRT and intracavitary brachytherapy for locally advanced cervical cancer. J Appl Clin Med Phys. 2016;17:70-79 pubmed publisher
    ..receiving 100% of the prescription dose (V100%), and the doses received by 2 cc and 40% of the OARs (D2 cc and D40). As the distance, d, between the prescription point and the tandem varied within 1.0 and 1...
  57. Wang R, Khan A, Han S, Zhang X. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. J Hum Genet. 2017;62:299-304 pubmed publisher
    ..known mutations in ASPM, three with novel mutations in WDR62 and one with a novel in-frame deletion mutation in CASC5. Affected individuals harbored the c.3978G>A (p...
  58. Westendorp H, Nuver T, Hoekstra C, Moerland M, Minken A. Edema and Seed Displacements Affect Intraoperative Permanent Prostate Brachytherapy Dosimetry. Int J Radiat Oncol Biol Phys. 2016;96:197-205 pubmed publisher
    ..Intraoperative dosimetry (minimal dose to 40%-95% of the volume [D40-D95]) was compared with the day 30 dosimetry for both modalities...
  59. Yuan I, Leontiou I, Amin P, May K, Soper Ní Chafraidh S, Zlámalová E, et al. Generation of a Spindle Checkpoint Arrest from Synthetic Signaling Assemblies. Curr Biol. 2017;27:137-143 pubmed publisher
    ..a reductionist approach, avoiding the complexities of kinetochores, and demonstrate that co-recruitment of KNL1Spc7 and Mps1Mph1 is sufficient to generate a robust checkpoint signal and prolonged mitotic arrest...
  60. Calender A, Rollat Farnier P, Buisson A, Pinson S, Bentaher A, Lebecque S, et al. Whole exome sequencing in three families segregating a pediatric case of sarcoidosis. BMC Med Genomics. 2018;11:23 pubmed publisher
    ..regulation (ex: OBSCN, CTTND2 and DNAH11), T-cell activation (ex: IDO2, IGSF3), mitosis and/or immune synapse (ex: SPICE1 and KNL1). The significance of these findings needs to be confirmed by functional tests on selected gene variants.
  61. Espeut J, Lara Gonzalez P, Sassine M, Shiau A, Desai A, Abrieu A. Natural Loss of Mps1 Kinase in Nematodes Uncovers a Role for Polo-like Kinase 1 in Spindle Checkpoint Initiation. Cell Rep. 2015;12:58-65 pubmed publisher
    ..Mps1 kinase initiates checkpoint signaling by phosphorylating the kinetochore-localized scaffold protein Knl1 to create phospho-docking sites for Bub1/Bub3...
  62. Caldas G, Lynch T, Anderson R, Afreen S, Varma D, DeLuca J. The RZZ complex requires the N-terminus of KNL1 to mediate optimal Mad1 kinetochore localization in human cells. Open Biol. 2015;5: pubmed publisher
    ..In budding yeast and Caenorhabditis elegans, Bub1, recruited to kinetochores through KNL1, recruits Mad1/Mad2 by direct linkage with Mad1...
  63. Zhang G, Méndez B, Sedgwick G, Nilsson J. Two functionally distinct kinetochore pools of BubR1 ensure accurate chromosome segregation. Nat Commun. 2016;7:12256 pubmed publisher
    ..pool of BubR1/Bub3 localizes by directly binding to phosphorylated MELT repeats on the outer kinetochore protein KNL1. When we prevent the direct binding of BubR1/Bub3 to KNL1 the checkpoint is weakened because BubR1/Bub3 is not ..
  64. Di Carlo C, Trignani M, Caravatta L, Vinciguerra A, Augurio A, Perrotti F, et al. Hippocampal sparing in stereotactic radiotherapy for brain metastases: To contour or not contour the hippocampus?. Cancer Radiother. 2018;22:120-125 pubmed publisher
    ..Hippocampus was defined both as a single and as pair organ. Constraints analysed were: Dmax<16Gy, D40%<7.3Gy, D100%=Dmin<9Gy...
  65. Silió V, McAinsh A, Millar J. KNL1-Bubs and RZZ Provide Two Separable Pathways for Checkpoint Activation at Human Kinetochores. Dev Cell. 2015;35:600-613 pubmed publisher
    ..The current model involves sequential phospho-dependent recruitment of Bub3:Bub1 to KNL1 followed by binding of Mad1:Mad2 to Bub1...
  66. Takimoto M, Wei G, Dosaka Akita H, Mao P, Kondo S, Sakuragi N, et al. Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers. Br J Cancer. 2002;86:1757-62 pubmed
    ..A search for public databases for sequence homologies showed that the D40 gene is identical to AF15q14. D40 mRNA is predominantly expressed in normal testis tissue...
  67. Genin A, Desir J, Lambert N, Biervliet M, Van der Aa N, Pierquin G, et al. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012;21:5306-17 pubmed publisher
    ..Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from three consanguineous families, in one of which we initially reported the MCPH4 locus...
  68. Caldas G, Deluca K, DeLuca J. KNL1 facilitates phosphorylation of outer kinetochore proteins by promoting Aurora B kinase activity. J Cell Biol. 2013;203:957-69 pubmed
    ..The kinetochore protein KNL1 recruits Aurora B–counteracting phosphatases and the Aurora B–targeting factor Bub1, yet the consequences of ..
  69. Vleugel M, Hoek T, Tromer E, Sliedrecht T, Groenewold V, Omerzu M, et al. Dissecting the roles of human BUB1 in the spindle assembly checkpoint. J Cell Sci. 2015;128:2975-82 pubmed publisher
    ..The presence of this segment correlates with SAC activity and efficient binding of CDC20 but not of MAD1 to kinetochores. ..
  70. Ray M, Su Y, Meltzer P, Trent J. Isolation and characterization of genes associated with chromosome-6 mediated tumor suppression in human malignant melanoma. Oncogene. 1996;12:2527-33 pubmed
    ..This novel approach should facilitate the identification of genes whose expression is causally related to the suppressed phenotype. ..
  71. Chinwalla V, Chien A, Odero M, Neilly M, Zeleznik Le N, Rowley J. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. Oncogene. 2003;22:1400-10 pubmed
    ..Recent studies have shown that MLL is fused to AF15q14 in the t(11;15)...
  72. Shrestha R, Conti D, Tamura N, Braun D, Ramalingam R, Cieśliński K, et al. Aurora-B kinase pathway controls the lateral to end-on conversion of kinetochore-microtubule attachments in human cells. Nat Commun. 2017;8:150 pubmed publisher
    ..we compare the roles of two outer-kinetochore bound phosphatases and find that BubR1-associated PP2A, unlike KNL1-associated PP1, plays a significant role in end-on conversion...
  73. Williams S, Abrieu A, Losada A. Bub1 targeting to centromeres is sufficient for Sgo1 recruitment in the absence of kinetochores. Chromosoma. 2017;126:279-286 pubmed publisher
    ..both CENP-C and CENP-T can independently drive centromeric accumulation of Sgo1 through recruitment of Bub1 to the KNL1, MIS12, NDC80 (KMN) network...
  74. Barbato O, Guelfi G, Barile V, Menchetti L, Tortiello C, Canali C, et al. Using real-time PCR to identify pregnancy-associated glycoprotein 2 (PAG-2) in water buffalo (Bubalus bubalis) blood in early pregnancy. Theriogenology. 2017;89:106-113 pubmed publisher
    ..Pregnancy diagnosis was performed on Day 28 (D28) and Day 40 (D40) after AI by ultrasonography (US) and by PAG-1 RIA method...
  75. Kim S, Yu H. Multiple assembly mechanisms anchor the KMN spindle checkpoint platform at human mitotic kinetochores. J Cell Biol. 2015;208:181-96 pubmed publisher
    ..The constitutive centromere-associated network (CCAN) at inner kinetochores anchors the KMN network consisting of Knl1, the Mis12 complex (Mis12C), and the Ndc80 complex (Ndc80C) at outer kinetochores...
  76. Ji Z, Gao H, Jia L, Li B, Yu H. A sequential multi-target Mps1 phosphorylation cascade promotes spindle checkpoint signaling. elife. 2017;6: pubmed publisher
    ..The kinetochore scaffold Knl1, when phosphorylated by Mps1, recruits checkpoint complexes Bub1-Bub3 and BubR1-Bub3 to unattached kinetochores...
  77. Ikeda M, Tanaka K. Plk1 bound to Bub1 contributes to spindle assembly checkpoint activity during mitosis. Sci Rep. 2017;7:8794 pubmed publisher
    ..phosphorylation of Mps1, an essential kinase for the SAC, as well as through phosphorylation of the MELT repeats in Knl1. Bub1 acts as a platform for assembling other SAC components on the phosphorylated MELT repeats...
  78. Vallardi G, Cordeiro M, Saurin A. A Kinase-Phosphatase Network that Regulates Kinetochore-Microtubule Attachments and the SAC. Prog Mol Subcell Biol. 2017;56:457-484 pubmed publisher
    The KMN network (for KNL1, MIS12 and NDC80 complexes) is a hub for signalling at the outer kinetochore...
  79. Miyazaki S, Kim J, Sakuno T, Watanabe Y. Hierarchical Regulation of Centromeric Cohesion Protection by Meikin and Shugoshin during Meiosis I. Cold Spring Harb Symp Quant Biol. 2017;: pubmed publisher
    ..stably with CENP-C during meiosis I, recruits Plo1 (polo-like kinase) to the kinetochores and phosphorylates Spc7 (KNL1), inducing the persistent accumulation of Bub1 at kinetochores...
  80. Sasao T, Takimoto M, Itoh N, Maeda T, Tanaka T, Masumori N, et al. Testis cancer gene D40 expression and its relationship with clinicopathological features in infertile men. Int J Urol. 2011;18:175-9 pubmed publisher
    We previously identified a novel human cancer/testis gene, D40, which is dominantly expressed in testicular germ cells, various cancer cell lines and primary human tumors...
  81. Shi L, Hu E, Wang Z, Liu J, Li J, Li M, et al. Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution. Hum Genet. 2017;136:193-204 pubmed publisher
    ..We conducted a comprehensive analysis of the brain size regulating gene CASC5 and found that in recent human evolution, CASC5 has accumulated many modern human specific amino acid changes, ..
  82. Wei G, Takimoto M, Yoshida I, Mao P, Koya R, Miura T, et al. Chromosomal assignment of a novel human gene D40. Nucleic Acids Symp Ser. 1999;:71-2 pubmed
    We have previously reported an identification of a novel human cellular factor, D40. Here, we report the chromosomal localization of the gene that encodes D40...
  83. Lara Gonzalez P, Scott M, Diez M, Sen O, Taylor S. BubR1 blocks substrate recruitment to the APC/C in a KEN-box-dependent manner. J Cell Sci. 2011;124:4332-45 pubmed publisher
    ..Thus, we propose a model in which the BubR1 KEN boxes play two very different roles, the first to promote MCC assembly and the second to block substrate recruitment to APC/C(Cdc20). ..
  84. Sasao T, Itoh N, Takano H, Watanabe S, Wei G, Tsukamoto T, et al. The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. Reproduction. 2004;128:709-16 pubmed
    We have previously identified and cloned a human gene, D40, that is preferentially expressed in testis among normal organs, while it is widely expressed in various human tumor cell lines and primary tumors derived from different organs...
  85. Szczepanski S, Hussain M, Sur I, Altmüller J, Thiele H, Abdullah U, et al. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016;135:157-70 pubmed publisher
    ..b>CASC5, a gene encoding a protein important for kinetochore formation and proper chromosome segregation during mitosis, ..
  86. Zhou X, Zheng F, Wang C, Wu M, Zhang X, Wang Q, et al. Phosphorylation of CENP-C by Aurora B facilitates kinetochore attachment error correction in mitosis. Proc Natl Acad Sci U S A. 2017;114:E10667-E10676 pubmed publisher
    ..A physical connection between CENP-C and the Mis12-Ndc80-Knl1 (KMN) protein network is an important pathway that is used to assemble kinetochores on CENP-A nucleosomes...
  87. Kuefer M, Chinwalla V, Zeleznik Le N, Behm F, Naeve C, Rakestraw K, et al. Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). Oncogene. 2003;22:1418-24 pubmed
    ..One of these translocations, t(11;15)(q23;q14), occurs rarely in both ALL and AML. The gene on chromosome 15, AF15q14, was cloned recently in a patient with AML-M4. We have identified the same gene in a de novo T-ALL patient...
  88. Petrovic A, Keller J, Liu Y, Overlack K, John J, Dimitrova Y, et al. Structure of the MIS12 Complex and Molecular Basis of Its Interaction with CENP-C at Human Kinetochores. Cell. 2016;167:1028-1040.e15 pubmed publisher
    ..The 10-subunit KMN assembly (comprising KNL1, MIS12, and NDC80 complexes, designated KNL1C, MIS12C, and NDC80C) binds microtubules and regulates mitotic ..
  89. Kops G, Kim Y, Weaver B, Mao Y, McLeod I, Yates J, et al. ZW10 links mitotic checkpoint signaling to the structural kinetochore. J Cell Biol. 2005;169:49-60 pubmed
    ..Thus, ZW10 functions as a linker between the core structural elements of the outer kinetochore and components that catalyze generation of the mitotic checkpoint-derived "stop anaphase" inhibitor. ..
  90. Espert A, Uluocak P, Bastos R, Mangat D, Graab P, Gruneberg U. PP2A-B56 opposes Mps1 phosphorylation of Knl1 and thereby promotes spindle assembly checkpoint silencing. J Cell Biol. 2014;206:833-42 pubmed publisher
    ..Mps1 phosphorylation of Knl1 results in recruitment of the SAC proteins Bub1, Bub3, and BubR1 to the kinetochore and production of the wait-..
  91. Saadi A, Verny F, Siquier Pernet K, Bole Feysot C, Nitschke P, Munnich A, et al. Refining the phenotype associated with CASC5 mutation. Neurogenetics. 2016;17:71-8 pubmed publisher
    ..Most of these encode centrosomal proteins. CASC5 is one the most recently unravelled genes responsible for MCPH with mutations reported in three consanguineous ..