Protein Bloomovog sindroma

BLM
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M
Identifikatori
Aliasi	BLM
Vanjski ID-jevi	OMIM: 604610 MGI: 1328362 HomoloGene: 47902 GeneCards: BLM
Lokacija gena (čovjek)
Hrom.	Hromosom 15 (čovjek)
Kraj	90,816,166 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	80,184,867 bp
Ontologija gena
Molekularna funkcija	• ATP-dependent DNA/DNA annealing activity; • nucleotide binding; • GO:0008026 helicase activity; • GO:0004003 DNA helicase activity; • bubble DNA binding; • p53 binding; • G-quadruplex DNA binding; • single-stranded DNA binding; • GO:0102490, GO:0102491, GO:0102489, GO:0102488, GO:0102487, GO:0102486, GO:0102485 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; • ATPase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • catalytic activity; • nucleic acid binding; • GO:1990163 four-way junction helicase activity; • hydrolase activity; • ATP binding; • GO:0043140 3'-5' DNA helicase activity; • four-way junction DNA binding; • Y-form DNA binding; • forked DNA-dependent helicase activity; • telomeric D-loop binding; • telomeric G-quadruplex DNA binding; • 8-hydroxy-2'-deoxyguanosine DNA binding; • vezivanje sa DNK; • ATP-dependent activity, acting on DNA; • vezivanje iona cinka; • protein homodimerization activity; • vezivanje iona metala;
Ćelijska komponenta	• PML body; • nuclear matrix; • intracellular anatomical structure; • nukleoplazma; • lateralni element; • Telomera; • nuclear chromosome; • Jedarce; • jedro; • citoplazma; • citosol; • replication fork; • hromosom; • pronucleus;
Biološki proces	• DNA recombination; • regulation of cyclin-dependent protein serine/threonine kinase activity; • replication fork protection; • DNA double-strand break processing; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • negative regulation of cell division; • cellular response to camptothecin; • cell metabolism; • protein complex oligomerization; • replication fork processing; • negative regulation of DNA recombination; • cellular response to ionizing radiation; • mitotic G2 DNA damage checkpoint signaling; • response to X-ray; • cellular response to hydroxyurea; • GO:0100026 Popravka DNK; • double-strand break repair via homologous recombination; • telomeric D-loop disassembly; • Replikacija DNK; • t-circle formation; • DNA duplex unwinding; • G-quadruplex DNA unwinding; • protein homooligomerization; • regulation of DNA-dependent DNA replication; • cellular response to DNA damage stimulus; • resolution of meiotic recombination intermediates; • DNA synthesis involved in DNA repair; • strand displacement; • double-strand break repair via nonhomologous end joining; • meiotic DNA double-strand break processing involved in reciprocal meiotic recombination; • negative regulation of apoptotic process; • double-strand break repair via synthesis-dependent strand annealing; • negative regulation of mitotic recombination; • alpha-beta T cell differentiation; • positive regulation of alpha-beta T cell proliferation; • meiotic chromosome separation; • negative regulation of thymocyte apoptotic process; • resolution of recombination intermediates; • negative regulation of double-strand break repair via single-strand annealing; • positive regulation of double-strand break repair via homologous recombination; • regulation of signal transduction by p53 class mediator; • telomere maintenance; • DNA unwinding involved in DNA replication;
	Izvori:Amigo / QuickGO
Ortolozi
	641
	12144
	ENSG00000197299
	ENSMUSG00000030528
	P54132
	O88700
	NM_000057; NM_001287246; NM_001287247; NM_001287248
	NM_001042527; NM_007550
	NP_000048; NP_001274175; NP_001274176; NP_001274177; NP_001274177.1
	NP_001035992; NP_031576
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein Bloomovog sindroma je protein koji je kod ljudi kodiran genom BLM sa hromosoma 15, koji nije eksprimiran u Bloomovom sindromu.^[5]

Genski proizvod Bloomovog sindroma povezan je sa RecQ podskupom DNK helikaze koji sadrži DExH kutiju i ima aktivnosti DNK stimulirane ATPaze i ATP-ovisne DNK helikaze. Mutacije koje uzrokuju Bloomov sindrom deletiraju ili mijenjaju motive helikaze i mogu onemogućiti aktivnost 3' → 5' helikaze. Normalni protein može djelovati na suzbijanje neodgovarajuće homologne rekombinacije.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.417 aminokiselina, a molekulska težina 159.000 Da.^[5]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAAVPQNNLQ	EQLERHSART	LNNKLSLSKP	KFSGFTFKKK	TSSDNNVSVT
NVSVAKTPVL	RNKDVNVTED	FSFSEPLPNT	TNQQRVKDFF	KNAPAGQETQ
RGGSKSLLPD	FLQTPKEVVC	TTQNTPTVKK	SRDTALKKLE	FSSSPDSLST
INDWDDMDDF	DTSETSKSFV	TPPQSHFVRV	STAQKSKKGK	RNFFKAQLYT
TNTVKTDLPP	PSSESEQIDL	TEEQKDDSEW	LSSDVICIDD	GPIAEVHINE
DAQESDSLKT	HLEDERDNSE	KKKNLEEAEL	HSTEKVPCIE	FDDDDYDTDF
VPPSPEEIIS	ASSSSSKCLS	TLKDLDTSDR	KEDVLSTSKD	LLSKPEKMSM
QELNPETSTD	CDARQISLQQ	QLIHVMEHIC	KLIDTIPDDK	LKLLDCGNEL
LQQRNIRRKL	LTEVDFNKSD	ASLLGSLWRY	RPDSLDGPME	GDSCPTGNSM
KELNFSHLPS	NSVSPGDCLL	TTTLGKTGFS	ATRKNLFERP	LFNTHLQKSF
VSSNWAETPR	LGKKNESSYF	PGNVLTSTAV	KDQNKHTASI	NDLERETQPS
YDIDNFDIDD	FDDDDDWEDI	MHNLAASKSS	TAAYQPIKEG	RPIKSVSERL
SSAKTDCLPV	SSTAQNINFS	ESIQNYTDKS	AQNLASRNLK	HERFQSLSFP
HTKEMMKIFH	KKFGLHNFRT	NQLEAINAAL	LGEDCFILMP	TGGGKSLCYQ
LPACVSPGVT	VVISPLRSLI	VDQVQKLTSL	DIPATYLTGD	KTDSEATNIY
LQLSKKDPII	KLLYVTPEKI	CASNRLISTL	ENLYERKLLA	RFVIDEAHCV
SQWGHDFRQD	YKRMNMLRQK	FPSVPVMALT	ATANPRVQKD	ILTQLKILRP
QVFSMSFNRH	NLKYYVLPKK	PKKVAFDCLE	WIRKHHPYDS	GIIYCLSRRE
CDTMADTLQR	DGLAALAYHA	GLSDSARDEV	QQKWINQDGC	QVICATIAFG
MGIDKPDVRF	VIHASLPKSV	EGYYQESGRA	GRDGEISHCL	LFYTYHDVTR
LKRLIMMEKD	GNHHTRETHF	NNLYSMVHYC	ENITECRRIQ	LLAYFGENGF
NPDFCKKHPD	VSCDNCCKTK	DYKTRDVTDD	VKSIVRFVQE	HSSSQGMRNI
KHVGPSGRFT	MNMLVDIFLG	SKSAKIQSGI	FGKGSAYSRH	NAERLFKKLI
LDKILDEDLY	INANDQAIAY	VMLGNKAQTV	LNGNLKVDFM	ETENSSSVKK
QKALVAKVSQ	REEMVKKCLG	ELTEVCKSLG	KVFGVHYFNI	FNTVTLKKLA
ESLSSDPEVL	LQIDGVTEDK	LEKYGAEVIS	VLQKYSEWTS	PAEDSSPGIS
LSSSRGPGRS	AAEELDEEIP	VSSHYFASKT	RNERKRKKMP	ASQRSKRRKT
ASSGSKAKGG	SATCRKISSK	TKSSSIIGSS	SASHTSQATS	GANSKLGIMA
PPKPINRPFL	KPSYAFS

Mejoza

Model mejotske rekombinacije, iniciran prekidom ili prazninom dvostrukog lanca, nakon čega slijedi uparivanje s homolognim hromosomom i invazija lanca kako bi se pokrenuo proces rekombinacijske popravke. Popravka jaza može dovesti do krosing-overa (CO) ili nekrosinga (NCO) bočnih regija. Smatra se da se rekombinacija CO javlja pomoću modela dvostrukpg Hollidayevog spoja (DHJ), ilustrovanog na desnoj strani, iznad. Smatra se da se NCO rekombinanti javljaju prvenstveno po modelu udvajanja ovisnog o lancima od sinteze (SDSA), koji je ilustrovan lijevo, gore. Čini se da je većina događaja rekombinacije tipa SDSA.

Rekombinacija tokom mejoze je često inicirana prekidom dvostrukog lanca DNK (DSB). Tokom rekombinacije, dijelovi DNK na 5' krajevima prekida se odsijecaju u procesu koji se zove resekcija. U koraku invazije lanca koji slijedi, nadvišena 3' kraj slomljenog molekula DNK tada "napada" DNK homolognog hromosoma koji nije slomljen. Nakon invazije lanca, daljnji slijed događaja može pratiti bilo koji od dva glavna puta koji vode do krosingovera (CO) ili bez njega (NCO) rekombinanta (pogledajte Genetička rekombinacija i donji dio slike u ovom odjeljku).

Pupajući kvasac Saccharomyces cerevisiae kodira ortolog proteina Bloomovog sindroma (BLM) koji je označen kao Sgs1 (mali supresor rasta 1). Sgs1(BLM) je helikaza koja funkcionira popravkama homolognom rekombinacijom DSB-a. Čini se da je helikaza Sgs1(BLM) centralni regulator većine rekombinacijskih događaja koji se dešavaju tokom mejoza uS. cerevisiae.^[7] Tokom normalne mejoze Sgs1(BLM) je odgovoran za usmjeravanje rekombinacije ka alternativnom formiranju ili ranih NCO-a ili Hollidayevih spona zglobnih molekula, pri čemu se potonji kasnije rješavaju kao COs.^[7]

U biljci Arabidopsis thaliana, homolozi Sgs1(BLM) helikaze djeluju kao glavne barijere za mejotsko stvaranje CO.^[8] Smatra se da ove helikaze istiskuju invazivni lanac, omogućavajući njegovo udvostručavanje s drugim 3'-prepustnim krajem DSB-a, što dovodi do formiranja NCO rekombinantnog procesa postupkom koji se naziva udvostručavanje lanca ovisno o sintezi (SDSA) (vidi Genetička rekombinacija i sliku na ovaj odeljak). Procjenjuje se da je samo oko 4% DSB-a popravljeno rekombinacijom CO,^[9] Sequela-Arnaud et al.^[8] sugerirajići da su brojevi CO ograničeni zbog dugoročnih troškova rekombinacije CO, odnosno razbijanja povoljnih genetičkih kombinacija alela stvorenih prošlim prirodnim odabiranjem.

Interakcije

Pokazalo se da protein Bloomovog sindroma reaguje sa:

ATM,^[10]^[11]
CHAF1A,^[12]
CHEK1,^[13]
FANCM,^[14]
FEN1,^[15]
H2AFX,^[13]
MLH1^[10]^[16]^[17]^[18]
P53,^[13]^[19]^[20]^[21]
RAD51L3,^[22]
RAD51,^[23]
RPA1,^[24]^[25]^[26]
TOP3A,^[16]^[24]^[27]^[28]
TP53BP1,^[13]
WRN,^[29] i
XRCC2.^[22]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197299 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030528 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Karow JK, Chakraverty RK, Hickson ID (januar 1998). "The Bloom's syndrome gene product is a 3'-5' DNA helicase". J Biol Chem. 272 (49): 30611–4. doi:10.1074/jbc.272.49.30611. PMID 9388193.
^ "Bloom syndrome". Genetics Home Reference. NIH. Pristupljeno 19. 3. 2013.
^ ^a ^b De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, Dayani Y, Lichten M (2012). "BLM helicase ortholog Sgs1 is a central regulator of meiotic recombination intermediate metabolism". Mol. Cell. 46 (1): 43–53. doi:10.1016/j.molcel.2012.02.020. PMC 3328772. PMID 22500736.
^ ^a ^b Séguéla-Arnaud M, Crismani W, Larchevêque C, Mazel J, Froger N, Choinard S, Lemhemdi A, Macaisne N, Van Leene J, Gevaert K, De Jaeger G, Chelysheva L, Mercier R (2015). "Multiple mechanisms limit meiotic crossovers: TOP3α and two BLM homologs antagonize crossovers in parallel to FANCM". Proc. Natl. Acad. Sci. U.S.A. 112 (15): 4713–8. Bibcode:2015PNAS..112.4713S. doi:10.1073/pnas.1423107112. hdl:1854/LU-6829814. PMC 4403193. PMID 25825745.
^ Crismani W, Girard C, Froger N, Pradillo M, Santos JL, Chelysheva L, Copenhaver GP, Horlow C, Mercier R (2012). "FANCM limits meiotic crossovers". Science. 336 (6088): 1588–90. Bibcode:2012Sci...336.1588C. doi:10.1126/science.1220381. PMID 22723424. S2CID 14570996.
^ ^a ^b Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (april 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. doi:10.1101/gad.14.8.927. PMC 316544. PMID 10783165.
^ Beamish H, Kedar P, Kaneko H, Chen P, Fukao T, Peng C, Beresten S, Gueven N, Purdie D, Lees-Miller S, Ellis N, Kondo N, Lavin MF (august 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM". J. Biol. Chem. 277 (34): 30515–23. doi:10.1074/jbc.M203801200. PMID 12034743.
^ Jiao R, Bachrati CZ, Pedrazzi G, Kuster P, Petkovic M, Li JL, Egli D, Hickson ID, Stagljar I (juni 2004). "Physical and functional interaction between the Bloom's syndrome gene product and the largest subunit of chromatin assembly factor 1". Mol. Cell. Biol. 24 (11): 4710–9. doi:10.1128/MCB.24.11.4710-4719.2004. PMC 416397. PMID 15143166.
^ ^a ^b ^c ^d Sengupta S, Robles AI, Linke SP, Sinogeeva NI, Zhang R, Pedeux R, Ward IM, Celeste A, Nussenzweig A, Chen J, Halazonetis TD, Harris CC (septembar 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest". J. Cell Biol. 166 (6): 801–13. doi:10.1083/jcb.200405128. PMC 2172115. PMID 15364958.
^ Deans AJ, West SC (24. 12. 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. Cell. 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.
^ Sharma S, Sommers JA, Wu L, Bohr VA, Hickson ID, Brosh RM (mart 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847–56. doi:10.1074/jbc.M309898200. PMID 14688284.
^ ^a ^b Freire R, d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson ID, Jackson SP (august 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha". Nucleic Acids Res. 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874.
^ Langland G, Kordich J, Creaney J, Goss KH, Lillard-Wetherell K, Bebenek K, Kunkel TA, Groden J (august 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959.
^ Pedrazzi G, Perrera C, Blaser H, Kuster P, Marra G, Davies SL, Ryu GH, Freire R, Hickson ID, Jiricny J, Stagljar I (novembar 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1". Nucleic Acids Res. 29 (21): 4378–86. doi:10.1093/nar/29.21.4378. PMC 60193. PMID 11691925.
^ Wang XW, Tseng A, Ellis NA, Spillare EA, Linke SP, Robles AI, Seker H, Yang Q, Hu P, Beresten S, Bemmels NA, Garfield S, Harris CC (august 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766.
^ Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV (decembar 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control". Oncogene. 20 (57): 8276–80. doi:10.1038/sj.onc.1205120. PMID 11781842.
^ Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D, Griffith JD, Li JL, Hickson ID, Shen JC, Loeb LA, Mazur SJ, Appella E, Brosh RM, Karmakar P, Bohr VA, Harris CC (august 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53". J. Biol. Chem. 277 (35): 31980–7. doi:10.1074/jbc.M204111200. PMID 12080066.
^ ^a ^b Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (novembar 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. 278 (48): 48357–66. doi:10.1074/jbc.M308838200. hdl:10026.1/10297. PMID 12975363.
^ Wu L, Davies SL, Levitt NC, Hickson ID (juni 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509.
^ ^a ^b Brosh RM, Li JL, Kenny MK, Karow JK, Cooper MP, Kureekattil RP, Hickson ID, Bohr VA (august 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162.
^ Opresko PL, von Kobbe C, Laine JP, Harrigan J, Hickson ID, Bohr VA (oktobar 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110–9. doi:10.1074/jbc.M205396200. PMID 12181313.
^ Moens PB, Kolas NK, Tarsounas M, Marcon E, Cohen PE, Spyropoulos B (april 2002). "The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination". J. Cell Sci. 115 (Pt 8): 1611–22. doi:10.1242/jcs.115.8.1611. PMID 11950880.
^ Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (mart 2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. PMID 10734115.
^ Hu P, Beresten SF, van Brabant AJ, Ye TZ, Pandolfi PP, Johnson FB, Guarente L, Ellis NA (juni 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. PMID 11406610.
^ von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng X, Brosh RM, Hickson ID, Bohr VA (juni 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035–44. doi:10.1074/jbc.M200914200. PMID 11919194.

Dopunska literatura

Woo LL, Onel K, Ellis NA (2007). "The broken genome: genetic and pharmacologic approaches to breaking DNA". Ann. Med. 39 (3): 208–18. doi:10.1080/08035250601167136. PMID 17457718. S2CID 30395226.
McDaniel LD, Schultz RA (1992). "Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 7968–72. Bibcode:1992PNAS...89.7968M. doi:10.1073/pnas.89.17.7968. PMC 49836. PMID 1518822.
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell. 83 (4): 655–66. doi:10.1016/0092-8674(95)90105-1. PMID 7585968. S2CID 13439128.
German J, Roe AM, Leppert MF, Ellis NA (1994). "Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6669–73. Bibcode:1994PNAS...91.6669G. doi:10.1073/pnas.91.14.6669. PMC 44264. PMID 8022833.
Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M (1998). "Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome". Hum. Mol. Genet. 6 (9): 1427–34. doi:10.1093/hmg/6.9.1427. PMID 9285778.
Kaneko H, Orii KO, Matsui E, Shimozawa N, Fukao T, Matsumoto T, Shimamoto A, Furuichi Y, Hayakawa S, Kasahara K, Kondo N (1997). "BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal". Biochem. Biophys. Res. Commun. 240 (2): 348–53. doi:10.1006/bbrc.1997.7648. PMID 9388480.
Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. PMID 10734115.
Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells". Proc. Natl. Acad. Sci. U.S.A. 97 (10): 5214–9. Bibcode:2000PNAS...97.5214Y. doi:10.1073/pnas.090525897. PMC 25808. PMID 10779560.
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. doi:10.1101/gad.14.8.927. PMC 316544. PMID 10783165.
Karow JK, Constantinou A, Li JL, West SC, Hickson ID (2000). "The Bloom's syndrome gene product promotes branch migration of Holliday junctions". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6504–8. Bibcode:2000PNAS...97.6504K. doi:10.1073/pnas.100448097. PMC 18638. PMID 10823897.
Brosh RM, Li JL, Kenny MK, Karow JK, Cooper MP, Kureekattil RP, Hickson ID, Bohr VA (2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162.
Dutertre S, Ababou M, Onclercq R, Delic J, Chatton B, Jaulin C, Amor-Guéret M (2000). "Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase". Oncogene. 19 (23): 2731–8. doi:10.1038/sj.onc.1203595. PMID 10851073.
Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Guéret M (2000). "Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome". Hum. Mutat. 15 (6): 584–5. doi:10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I. PMID 10862105. S2CID 41245824.
Brosh RM, Karow JK, White EJ, Shaw ND, Hickson ID, Bohr VA (2000). "Potent inhibition of Werner and Bloom helicases by DNA minor groove binding drugs". Nucleic Acids Res. 28 (12): 2420–30. doi:10.1093/nar/28.12.2420. PMC 102731. PMID 10871376.
Wu L, Davies SL, Levitt NC, Hickson ID (2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509.
Langland G, Kordich J, Creaney J, Goss KH, Lillard-Wetherell K, Bebenek K, Kunkel TA, Groden J (2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959.
Wang XW, Tseng A, Ellis NA, Spillare EA, Linke SP, Robles AI, Seker H, Yang Q, Hu P, Beresten S, Bemmels NA, Garfield S, Harris CC (2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766.
Hu P, Beresten SF, van Brabant AJ, Ye TZ, Pandolfi PP, Johnson FB, Guarente L, Ellis NA (2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. PMID 11406610.
Freire R, d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson ID, Jackson SP (2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIα". Nucleic Acids Res. 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Bloom Syndrome
Lokacija ljudskog genoma BLM i stranica sa detaljima o genu BLM u UCSC Genome Browseru.
P54132

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197299 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030528 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9388193-5] Karow JK, Chakraverty RK, Hickson ID (januar 1998). "The Bloom's syndrome gene product is a 3'-5' DNA helicase". J Biol Chem. 272 (49): 30611–4. doi:10.1074/jbc.272.49.30611. PMID 9388193.

[6] "Bloom syndrome". Genetics Home Reference. NIH. Pristupljeno 19. 3. 2013.

[De-7] De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, Dayani Y, Lichten M (2012). "BLM helicase ortholog Sgs1 is a central regulator of meiotic recombination intermediate metabolism". Mol. Cell. 46 (1): 43–53. doi:10.1016/j.molcel.2012.02.020. PMC 3328772. PMID 22500736.

[Mazel-8] Séguéla-Arnaud M, Crismani W, Larchevêque C, Mazel J, Froger N, Choinard S, Lemhemdi A, Macaisne N, Van Leene J, Gevaert K, De Jaeger G, Chelysheva L, Mercier R (2015). "Multiple mechanisms limit meiotic crossovers: TOP3α and two BLM homologs antagonize crossovers in parallel to FANCM". Proc. Natl. Acad. Sci. U.S.A. 112 (15): 4713–8. Bibcode:2015PNAS..112.4713S. doi:10.1073/pnas.1423107112. hdl:1854/LU-6829814. PMC 4403193. PMID 25825745.

[pmid22723424-9] Crismani W, Girard C, Froger N, Pradillo M, Santos JL, Chelysheva L, Copenhaver GP, Horlow C, Mercier R (2012). "FANCM limits meiotic crossovers". Science. 336 (6088): 1588–90. Bibcode:2012Sci...336.1588C. doi:10.1126/science.1220381. PMID 22723424. S2CID 14570996.

[pmid10783165-10] Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (april 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. doi:10.1101/gad.14.8.927. PMC 316544. PMID 10783165.

[pmid12034743-11] Beamish H, Kedar P, Kaneko H, Chen P, Fukao T, Peng C, Beresten S, Gueven N, Purdie D, Lees-Miller S, Ellis N, Kondo N, Lavin MF (august 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM". J. Biol. Chem. 277 (34): 30515–23. doi:10.1074/jbc.M203801200. PMID 12034743.

[pmid15143166-12] Jiao R, Bachrati CZ, Pedrazzi G, Kuster P, Petkovic M, Li JL, Egli D, Hickson ID, Stagljar I (juni 2004). "Physical and functional interaction between the Bloom's syndrome gene product and the largest subunit of chromatin assembly factor 1". Mol. Cell. Biol. 24 (11): 4710–9. doi:10.1128/MCB.24.11.4710-4719.2004. PMC 416397. PMID 15143166.

[pmid15364958-13] Sengupta S, Robles AI, Linke SP, Sinogeeva NI, Zhang R, Pedeux R, Ward IM, Celeste A, Nussenzweig A, Chen J, Halazonetis TD, Harris CC (septembar 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest". J. Cell Biol. 166 (6): 801–13. doi:10.1083/jcb.200405128. PMC 2172115. PMID 15364958.

[14] Deans AJ, West SC (24. 12. 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. Cell. 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.

[pmid14688284-15] Sharma S, Sommers JA, Wu L, Bohr VA, Hickson ID, Brosh RM (mart 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847–56. doi:10.1074/jbc.M309898200. PMID 14688284.

[pmid11470874-16] Freire R, d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson ID, Jackson SP (august 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha". Nucleic Acids Res. 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874.

[pmid11325959-17] Langland G, Kordich J, Creaney J, Goss KH, Lillard-Wetherell K, Bebenek K, Kunkel TA, Groden J (august 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959.

[pmid11691925-18] Pedrazzi G, Perrera C, Blaser H, Kuster P, Marra G, Davies SL, Ryu GH, Freire R, Hickson ID, Jiricny J, Stagljar I (novembar 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1". Nucleic Acids Res. 29 (21): 4378–86. doi:10.1093/nar/29.21.4378. PMC 60193. PMID 11691925.

[pmid11399766-19] Wang XW, Tseng A, Ellis NA, Spillare EA, Linke SP, Robles AI, Seker H, Yang Q, Hu P, Beresten S, Bemmels NA, Garfield S, Harris CC (august 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766.

[pmid11781842-20] Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV (decembar 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control". Oncogene. 20 (57): 8276–80. doi:10.1038/sj.onc.1205120. PMID 11781842.

[pmid12080066-21] Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D, Griffith JD, Li JL, Hickson ID, Shen JC, Loeb LA, Mazur SJ, Appella E, Brosh RM, Karmakar P, Bohr VA, Harris CC (august 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53". J. Biol. Chem. 277 (35): 31980–7. doi:10.1074/jbc.M204111200. PMID 12080066.

[pmid12975363-22] Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (novembar 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. 278 (48): 48357–66. doi:10.1074/jbc.M308838200. hdl:10026.1/10297. PMID 12975363.

[pmid11278509-23] Wu L, Davies SL, Levitt NC, Hickson ID (juni 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509.

[pmid10825162-24] Brosh RM, Li JL, Kenny MK, Karow JK, Cooper MP, Kureekattil RP, Hickson ID, Bohr VA (august 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162.

[pmid12181313-25] Opresko PL, von Kobbe C, Laine JP, Harrigan J, Hickson ID, Bohr VA (oktobar 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110–9. doi:10.1074/jbc.M205396200. PMID 12181313.

[pmid11950880-26] Moens PB, Kolas NK, Tarsounas M, Marcon E, Cohen PE, Spyropoulos B (april 2002). "The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination". J. Cell Sci. 115 (Pt 8): 1611–22. doi:10.1242/jcs.115.8.1611. PMID 11950880.

[pmid10734115-27] Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (mart 2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. PMID 10734115.

[pmid11406610-28] Hu P, Beresten SF, van Brabant AJ, Ye TZ, Pandolfi PP, Johnson FB, Guarente L, Ellis NA (juni 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. PMID 11406610.

[pmid11919194-29] von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng X, Brosh RM, Hickson ID, Bohr VA (juni 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035–44. doi:10.1074/jbc.M200914200. PMID 11919194.

[5]

[1]

[2]

[3]

[4]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]

[17]

[18]

[19]

[20]

[21]

[22]

[23]

[24]

[25]

[26]

[27]

[28]

[29]