DNA polymerase mu

DNA polymerase mu is a
polymerase enzyme found in
POLM
eukaryotes. In humans, this protein is
encoded by the POLM gene.[5]

Contents Available structures

Function PDB Ortholog search: PDBe (https://www.ebi.ac.uk/pdbe/search
POLM mutant mice Results.html?display=both&term=Q9JIW4%20or%20Q9NP8
7) RCSB (http://www.rcsb.org/pdb/search/smartSubquery.d
References
o?smartSearchSubtype=UpAccessionIdQuery&accessionId
External links List=Q9JIW4,Q9NP87)
List of PDB id codes
Function
2HTF (https://www.rcsb.org/structure/2HTF), 4LZD
Pol μ is a member of the X family of (https://www.rcsb.org/structure/4LZD), 4M04 (https://
DNA polymerases. It participates in www.rcsb.org/structure/4M04), 4M0A (https://www.rc
resynthesis of damaged or missing sb.org/structure/4M0A), 4YCX (https://www.rcsb.org/
nucleotides during the non- structure/4YCX), 4YD1 (https://www.rcsb.org/structur
homologous end joining (NHEJ) e/4YD1), 4YD2 (https://www.rcsb.org/structure/4YD
2), 2DUN (https://www.rcsb.org/structure/2DUN)
pathway of DNA repair.[6] Pol μ
interacts with Ku and DNA ligase
IV, which also participate in Identifiers
NHEJ.[7] It is structurally and Aliases POLM (https://www.genenames.org/data/gene-symbol-re
functionally related to pol λ, and, like
port/#!/hgnc_id/9185), Pol Mu, Tdt-N, DNA polymerase
pol λ, pol μ has a BRCT domain that
mu, polymerase (DNA) mu
is thought to mediate interactions
with other DNA repair proteins.[8] External OMIM: 606344 (https://omim.org/entry/606344) MGI:
Unlike pol λ, however, pol μ has the IDs 1860191 (http://www.informatics.jax.org/marker/MGI:186
unique ability to add a base to a blunt 0191) HomoloGene: 41170 (https://www.ncbi.nlm.nih.go
end that is templated by the overhang v/entrez/query.fcgi?cmd=Retrieve&db=homologene&dopt
on the opposite end of the double- =HomoloGene&list_uids=41170) GeneCards: POLM (http
strand break.[9] Pol μ is also closely s://www.genecards.org/cgi-bin/carddisp.pl?gene=POLM)
related to terminal deoxynucleotidyl
transferase (TdT), a specialized Gene location (Human)
DNA polymerase that adds random
nucleotides to DNA ends during
V(D)J recombination, the process by
which B-cell and T-cell receptor
diversity is generated in the
vertebrate immune system. Like TdT,
pol μ participates in V(D)J
recombination, but only during light Chr. Chromosome 7 (human)[1]
chain rearrangements.[10] This is
distinct from pol λ, which is involved
in heavy chain rearrangements.[11]
Band 7p13 Start 44,072,062 bp[1]
POLM mutant mice End 44,082,530 bp[1]

Gene location (Mouse)

In polymerase mu mutant mice,
hematopoietic cell development is
defective in several peripheral and
bone marrow cell populations with
about a 40% decrease in bone
marrow cell number that includes
several hematopoietic lineages.[12]
Expansion potential of hematopoietic Chr. Chromosome 11 (mouse)[2]
progenitor cells is also reduced.
These characteristics correlate with
reduced ability to repair double-
strand breaks in hematopoietic tissue. Band 11|11 A1 Start 5,827,860 bp[2]
Whole body gamma irradiation of
polymerase mu mutant mice indicates End 5,838,016 bp[2]
that polymerase mu also has a role in RNA expression pattern
double-strand break repair in other
tissues unrelated to hematopoietic
tissue. Thus polymerase mu has a
significant role in maintaining genetic
stability in hematopoietic and non-
hematopoietic tissue.

References
1. GRCh38: Ensembl release
89: ENSG00000122678 (htt More reference expression data (http://biogps.org/gene/27434/)
p://May2017.archive.ensemb
Gene ontology
l.org/Homo_sapiens/Gene/Su
mmary?db=core;g=ENSG000 Molecular • transferase activity (http://amigo.geneontology.org/a
00122678) - Ensembl, May function migo/term/GO:0016740)
2017 • DNA binding (http://amigo.geneontology.org/amigo/t
2. GRCm38: Ensembl release erm/GO:0003677)
89: ENSMUSG00000020474
• DNA-directed DNA polymerase activity (http://amigo.
(http://May2017.archive.ense
mbl.org/Mus_musculus/Gene/ geneontology.org/amigo/term/GO:0003887)
Summary?db=core;g=ENSM • nucleotidyltransferase activity (http://amigo.geneonto
USG00000020474) - logy.org/amigo/term/GO:0016779)
Ensembl, May 2017 • GO:0001948 protein binding (http://amigo.geneontol
ogy.org/amigo/term/GO:0005515,)
• metal ion binding (http://amigo.geneontology.org/ami
go/term/GO:0046872)
• DNA polymerase
• DNA polymerase activity (http://amigo.geneontology.
org/amigo/term/GO:0034061)
3. "Human PubMed Reference:" Cellular • cell nucleus (http://amigo.geneontology.org/amigo/te
(https://www.ncbi.nlm.nih.gov/ component rm/GO:0005634)
sites/entrez?db=gene&cmd= • nucleoplasm (http://amigo.geneontology.org/amigo/t
Link&LinkName=gene_pubm
erm/GO:0005654)
ed&from_uid=27434).
National Center for Biological • somatic hypermutation of immunoglobulin genes (htt
Biotechnology Information, process p://amigo.geneontology.org/amigo/term/GO:0016446)
U.S. National Library of • B cell differentiation (http://amigo.geneontology.org/a
Medicine.
migo/term/GO:0030183)
4. "Mouse PubMed Reference:"
(https://www.ncbi.nlm.nih.gov/ • DNA recombination (http://amigo.geneontology.org/a
sites/entrez?db=gene&cmd= migo/term/GO:0006310)
Link&LinkName=gene_pubm • double-strand break repair via nonhomologous end
ed&from_uid=54125). joining (http://amigo.geneontology.org/amigo/term/G
National Center for O:0006303)
Biotechnology Information,
• cellular response to DNA damage stimulus (http://am
U.S. National Library of
Medicine. igo.geneontology.org/amigo/term/GO:0006974)
5. "Entrez Gene: POLM • DNA repair (http://amigo.geneontology.org/amigo/ter
polymerase (DNA directed), m/GO:0006281)
mu" (https://www.ncbi.nlm.ni • DNA biosynthetic process (http://amigo.geneontolog
h.gov/sites/entrez?Db=gene& y.org/amigo/term/GO:0071897)
Cmd=ShowDetailView&Term
ToSearch=27434). Sources:Amigo (http://amigo.geneontology.org/) / QuickGO (https://
www.ebi.ac.uk/QuickGO/)
6. Daley JM, Laan RL, Suresh
A, Wilson TE (August 2005). Orthologs
"DNA joint dependence of pol
X family polymerase action in Species Human Mouse
nonhomologous end joining" Entrez
(https://doi.org/10.1074/jbc.M 27434 (https://www.nc 54125 (https://www.ncbi.
505277200). J. Biol. Chem. bi.nlm.nih.gov/entrez/q nlm.nih.gov/entrez/query.f
280 (32): 29030–7. uery.fcgi?db=gene&c cgi?db=gene&cmd=retrie
doi:10.1074/jbc.M505277200
md=retrieve&dopt=def ve&dopt=default&list_uid
(https://doi.org/10.1074%2Fjb
c.M505277200). ault&list_uids=27434 s=54125&rn=1)
PMID 15964833 (https://pubm &rn=1)
ed.ncbi.nlm.nih.gov/1596483
3). Ensembl
ENSG00000122678 ENSMUSG00000020474
(http://www.ensembl.o (http://www.ensembl.org/
rg/Homo_sapiens/gen Mus_musculus/genevie
eview?gene=ENSG00 w?gene=ENSMUSG000
000122678;db=core) 00020474;db=core)

UniProt
Q9NP87 (https://www. Q9JIW4 (https://www.uni
uniprot.org/uniprot/Q9 prot.org/uniprot/Q9JIW4)
NP87)

RefSeq
(mRNA)
7. Mahajan KN, Nick McElhinny NM_001284330 (http NM_017401 (https://ww
SA, Mitchell BS, Ramsden s://www.ncbi.nlm.nih.g w.ncbi.nlm.nih.gov/entre
DA (July 2002). "Association ov/entrez/viewer.fcgi? z/viewer.fcgi?val=NM_01
of DNA polymerase mu (pol val=NM_001284330) 7401)
mu) with Ku and ligase IV: NM_001284331 (http
role for pol mu in end-joining s://www.ncbi.nlm.nih.g
double-strand break repair" (h ov/entrez/viewer.fcgi?
ttps://www.ncbi.nlm.nih.gov/p val=NM_001284331)
mc/articles/PMC139779). NM_013284 (https://w
Mol. Cell. Biol. 22 (14): 5194– ww.ncbi.nlm.nih.gov/e
202.
ntrez/viewer.fcgi?val=
doi:10.1128/MCB.22.14.5194
-5202.2002 (https://doi.org/10. NM_013284)
1128%2FMCB.22.14.5194-5 NM_001362683 (http
202.2002). PMC 139779 (http s://www.ncbi.nlm.nih.g
s://www.ncbi.nlm.nih.gov/pm ov/entrez/viewer.fcgi?
c/articles/PMC139779). val=NM_001362683)
PMID 12077346 (https://pubm
ed.ncbi.nlm.nih.gov/1207734 RefSeq
6). (protein) NP_001271259 (http NP_059097 (https://www.
8. Nick McElhinny SA, s://www.ncbi.nlm.nih.g ncbi.nlm.nih.gov/entrez/vi
Ramsden DA (August 2004). ov/entrez/viewer.fcgi? ewer.fcgi?val=NP_05909
"Sibling rivalry: competition val=NP_001271259) 7)
between Pol X family NP_001271260 (http
members in V(D)J
s://www.ncbi.nlm.nih.g
recombination and general
double strand break repair". ov/entrez/viewer.fcgi?
Immunol. Rev. 200: 156–64. val=NP_001271260)
doi:10.1111/j.0105- NP_037416 (https://w
2896.2004.00160.x (https://do ww.ncbi.nlm.nih.gov/e
i.org/10.1111%2Fj.0105-289 ntrez/viewer.fcgi?val=
6.2004.00160.x). NP_037416)
PMID 15242403 (https://pubm NP_001349612 (http
ed.ncbi.nlm.nih.gov/1524240 s://www.ncbi.nlm.nih.g
3). ov/entrez/viewer.fcgi?
9. Nick McElhinny SA, Havener val=NP_001349612)
JM, Garcia-Diaz M, et al.
(August 2005). "A gradient of Location Chr 7: 44.07 – 44.08 Mb Chr 11: 5.83 – 5.84 Mb (http
template dependence defines (UCSC) (https://genome.ucsc.edu/ s://genome.ucsc.edu/cgi-bin/
distinct biological roles for
cgi-bin/hgTracks?org=Hu hgTracks?org=Mouse&db=m
family X polymerases in
nonhomologous end joining". man&db=hg38&position=c m0&position=chr11:5827860-
Mol. Cell. 19 (3): 357–66. hr7:44072062-44082530) 5838016)
doi:10.1016/j.molcel.2005.06. PubMed [3] [4]
012 (https://doi.org/10.1016%
search
2Fj.molcel.2005.06.012).
PMID 16061182 (https://pubm Wikidata
ed.ncbi.nlm.nih.gov/1606118
View/Edit Human View/Edit Mouse
2).
10. Bertocci B, De Smet A, Berek
C, Weill JC, Reynaud CA
(August 2003).
"Immunoglobulin kappa light
chain gene rearrangement is
impaired in mice deficient for
DNA polymerase mu".
Immunity. 19 (2): 203–11.
doi:10.1016/S1074-
7613(03)00203-6 (https://doi.
org/10.1016%2FS1074-761
3%2803%2900203-6).
PMID 12932354 (https://pubm
ed.ncbi.nlm.nih.gov/1293235
4).
11. Bertocci B, De Smet A, Weill
JC, Reynaud CA (July 2006).
"Nonoverlapping functions of
DNA polymerases mu,
lambda, and terminal
deoxynucleotidyltransferase
during immunoglobulin V(D)J
recombination in vivo" (http://
www.hal.inserm.fr/docs/00/3
1/95/59/PDF/Table_3.pdf)
(PDF). Immunity. 25 (1): 31–
41.
doi:10.1016/j.immuni.2006.04
.013 (https://doi.org/10.1016%
2Fj.immuni.2006.04.013).
PMID 16860755 (https://pubm
ed.ncbi.nlm.nih.gov/1686075
5).
12. Lucas D, Escudero B, Ligos
JM, Segovia JC, Estrada JC,
Terrados G, Blanco L,
Samper E, Bernad A (Feb
2009). "Altered
hematopoiesis in mice
lacking DNA polymerase mu
is due to inefficient double-
strand break repair" (https://w
ww.ncbi.nlm.nih.gov/pmc/artic
les/PMC2638008). PLoS
Genet. 5 (2): e1000389.
doi:10.1371/journal.pgen.100
0389 (https://doi.org/10.137
1%2Fjournal.pgen.1000389).
PMC 2638008 (https://www.n
cbi.nlm.nih.gov/pmc/articles/P
MC2638008).
PMID 19229323 (https://pubm
ed.ncbi.nlm.nih.gov/1922932
3).
External links
Overview of all the structural information available in the PDB for UniProt: Q9NP87 (https://ww
w.ebi.ac.uk/pdbe/pdbe-kb/proteins/Q9NP87) (Human DNA-directed DNA/RNA polymerase mu)
at the PDBe-KB.

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