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A
DNA Polymerase
POL[ ]
Alimov Adrian
grupa 1106
Gena POLA
Localizare: Nucleu
Structura:
Secventa genei:
GCCATTTATTGGTAATGCTACTTCTGGTTATTTGGTTAAGACGGAGCATATATCTTTAAGTTGT
TAATCACACAGCCACTGTATCCAGACTGCTGAGAAGCAAACTATCAGGCAAAATTCAGGGC
GCGCAGCAGGAGGCAGTCGCTTTCCCGGCTCTGGGGAAAACGATCCAACCACGCCCACT
CTCCTGCCCGCCCGCGCCTCCTTTCCGGGAAAATGGGCTCTGAGAACCAGAGCGCCCTTT
CTCCCACGCGCCCAAATCTTTTCCCATCAGCATGCGTGCGCTTGCGCAGTCTCCAGGCGG
CTCCTTTCCAGCGCCCGACCGCTTCTTTCTCCTGCTCTCCTCCGGCTTCCCCTCAGCTCTAG
CTTTTCCCTAAGGGGTCATCACAGGGCGCCAAACGCGCGTCCGCGGGAAGGCCGGGGGC
GGAGCGCGGCGCGGCGCGGCACGTCAGTGGCCTTCCGGCCGGAAGTCCGCAGCCTCCC
GAGCCGCTGATTGGCTTTCAGGCTGGCGCCTGTCTCGGCCCCCGCGCCAGTTTTGGGCT
GGTTGGCGCGGAATCGGGAGATTCGGGACCATGGCACCTGTGCACGGCGACGACTGTGA
GATAGGGGCGAGTGGTGAGGGACAATTCCGCGCGCGGGGCTCCGGGTTGGGACAGTGG
CATGATTG
Functii
Expresia genei
:Transcripie
preARNm - 5486 nucleotide
Processin
ARNm - g:
5440 nucleotide
CAP-are
G-transferaza +
GTP
Poly-adenilare
Poly-Apolimeraza +
ATP
Splicing
U1-U6
:
Translaie
Polipeptid Maturizar
1462 aa e
AND polimeraza
Compozitia
Sindromul N: o boala
genetica rara
caracterizata prin retard
mintal si fizic, anomalii
ale ochilor, crestere
intarziata, afectarea
auzului i un risc ridicat
de dezvoltare a
cancerului, in special
leucemie.
Gena POLB
DNA Polymerase Beta Subunit
Localizare:
Caracteristica genei
Functii
Expresia genei
:Transcripie
preARNm
Processin
g:
ARNm
CAP-are
G-transferaza +
GTP
Poly-adenilare
Poly-Apolimeraza +
ATP
Splicing
U1-U6
:
Translaie
Maturizar
Polipeptide
AND polimeraza
B
Compozitia
Expresia in tesuturile
organismului
mieloblastoza
sindrom Werner
imunodeficien
cancer
tumori
leucemie
rabdomiosarcoma
Gena POLG
AND polymerase gamma subunit
Functii
sindromul Alpers-Huttenlocher
ataxie neuroplastica
miopatie
epilepsie
ataxie senzorial
oftalmoplegie externa
progresiva
Gena POLD
AND polimerase delta subunit
Localizare: Nucleu
-gena cu un singur locus
-situata pe bratul scurt al cromozomului 19
-pozitia genei: 13.33-13.41
-gena house-keeping
Functii
Cancerul colorectal
Hipoplazie mandibulara
surditate
progeroidie
lipodistrofie
Gena POLE
AND polimerase epsilon subunit
Localizare: Nucleu
-gena cu un singur locus
-situata pe bratul scurt al cromozomului 12
-pozitia genei: 24.33
- gena house-keeping
Functii
cancerul colorectal
dismorfism facial
sindromul imunodeficientei
livedo
statura joasa
Bibliografie
SABiosciences
http://www.sabiosciences.com
Alimov Adrian
grupa 1106
GeneCards
http://www.genecards.org
Genetic Esemble
http://www.ensembl.org
GeneLocation
http://genecards.weizmann.ac.il/geneloc/index.shtml
SwitchGear Genomics
http://switchgeargenomics.com