Gen & genome

Gene di truyn
Thi Mendel (1865), gen l yu t quyt nh s hnh thnh v pht trin mt tnh trng bn ngoi. C th ni mi gen Mendel l mt nhim sc th Morgan (1926) cho rng: khng phi mt gen m nhiu gen cng nm trn mt nhim sc th v l cc n v khng th chia nh hn c na. Theo gi thuyt mt gen mt enzim ca G.Beadle v E.Tatum (1940) cho rng mi gen quyt nh s tn ti v hot tnh ca mt enzim.

 Gene phn t: l trnh t trn DNA cn thit

tng hp 1 sn phm chc nng c th l polypeptit hoc RNA Gene tng hp mRNA mang thng tin qui nh chui polypeptit Gene tng hp tRNA, RRNA tham gia qu trnh dch m tng hp protein

DNA v gene prokaryote

- Prokaryote khng c cu trc nhn hon chnh, DNA c c Plasmid trong t bo cht c trong vng nhn. Ngoi ra, Lng roi cn c DNA khc l cc plasmid, n cng c dng vng nhng nh hn DNA nhim sc th

NST trn, dng vng

- Phn t DNA prokaryote khng cun xon vi protein histon v nhim sc th l mt phn t DNA trn dng vng.

Cu trc 1 gene prokaryote

- Cc gene nm trong mt nhm gi l Operon. - 1 operon mang thng tin qui nh s tng hp, iu ha mt s protein chc nng.

Operon mang gene tng hp Triptophan vi khun E.coli

Trnh t khi ng (promoter) ca prokaryote

Bt u phin m

Hp Pribnov

5
DNA

TTGACA -35

TATAAT

-10

+1

Cu trc gen sinh vt nhn chun

Promoter Khung c m

Bt u phin m
5UTR

Hp AGGA/CAAT
(-75)
5

Bt u dch m

Intron

Kt thc Kt thc dch m phin m UAA, UAG, UGA

AUG

3UTR
3

Hp TATA (-25)

Tn hiu chuyn peptit V tr gn riboxom

Exon
AATAAA Tn hiu poly A ha

Vng upstream

Vng downstream

Gm 3 vng chnh
1. Vng khi ng (promoter): nhiu gen ca sinh vt nhn chun u c chung mt s trnh t hp CAAT (-75) v TATA (-25) 2. Khung c m (khung c m): cc b 3 nu k tip nhau gm cc on exon (mang thng tin di truyn) xen k cc on intron (khng mang thng tin di truyn)
3. Trnh t kt thc phin m: trnh t 5 CCCAGCCCGCCTAATGAGCGGGCTTTTTT-3 Cha 2 on di 7 nu c trnh t b sung . Khi phin m to mRNA, hnh thnh cu trc kiu kp tc lm dng qu trnh phin m

Vng khi ng

C th: - mi gen c mt trnh t promoter nht nh - nhiu gen c mt trnh t promoter ging nhau

Khung c m
Bt u bng mt codon khi u: AUG hoc GUG

Kt thc bng mt trong 3 m kt thc; UAA/UAG/UGA

Chc nng ca gene phn t

1. Ti bn 2. Phin m to RNA 3. Dch m = sinh tng hp protein da trn khun mRNA

Genome l g???

Photo of intracellular bacterium courtesy of Gregory P. Henderson and Grant J. Jensen, California Institute of Technology

Photo of free-living bacterium courtesy of Karl O. Stetter, Universitt Regensburg

Photo of unicellular eukaryote courtesy of Eishi Noguchi, Drexel University College of Medicine Photo of multicellular eukaryote courtesy of Carolyn B. Marks and David H. Hall, Albert Einstein College of Medicine, Bronx, NY

Genome l g???

Photo of higher plant courtesy of Keith Weller/USDA

Photo of mammal Photodisc

09_25_Chromosome22.jpg

S lng gen
6000 genes nm men; 18,500 giun; 13,600 rui dm; 25,000 cy Arabidopsis; v khong 20,000 ti 25,000 chut v ngi; la li c ti 40 000 gene.

S lng gen mt s sinh vt nhn chun

 ngi: chiu di trung bnh ca 1 gen l 27kb.

Genome l ton b cc gen c trong mt giao t n bi ca loi

Genome nhn
- Genome ca nhn c cu trc nn t mt b cc cp nhim sc th tng ng - Genome nhn ca cc loi khc nhau cha hm lng DNA khc nhau. - B nhim sc th trong nhn c s lng, kch thc v hnh dng xc nh khc nhau c trng theo tng loi

Cc loi DNA trong genome nhn

(1)Loi DNA lp li mc cao:
Thng chim khong 10% DNA ca mi t bo Trnh t ngn di 10 cp baz C t 105 107 bn sao cho mi genome. Nhng trnh t ny thng khng m ho v thng gn cc vng chuyn bit trn nhim sc th

Cc loi DNA trong genome nhn

2. Loi DNA c trnh t lp li thp hoc trung bnh: - chim khong 20%. - cha cc on lp li c kch thc ln hn (100 cp baz, c lp li t mt vi n hng ngn ln - Mt s trong chng c chc nng m ho to ra rRNA, mRNA hay rRNA 5S. - V d 2 gen to histone v RNA ribosome l cc gen lp li nhiu ln trong genome nhn. Genome nhn ca V.faba c khong 4750 gen to ra rRNA trong khi genome ca V.sativa ch c khong 1875

Cc loi DNA trong genome nhn

(3) Loi DNA cha trnh t duy nht: - chim khong 70%. - Ch c mt bn v nhng trnh t ny ch lp li i ln, m ho cho cc protein. - Trong hu ht cc cy trng, ch c khong 20 40% ca b genome l c cha trnh t DNA ch lp li mt ln.

Genome ty th

Genome ty th
Chc nng/ Sn phm Gen

B my dch m
RNA ribosome rrn5, rrn18, rrn26

Protein ribosome
Bn phn t nh Bn phn t ln

rps1,rps3, rps7, rps12

rps13, rps14, rps19 rp12, rp15, rp116

RNA vn chuyn

t nht l 16 Cc bn phn t ca cc chui h hp

NADH dehydrogenase

nad1, nad2, nad3, nad4, nad41, nad5, nad6, nad7, nad9 Cob cox I, coxII, coxIII atp1, atp16, atp9 t nht l 4 gen t nht bit 10 gen

Cytochrome b Cytochrome c oxidase ATP synthase Cytochrome c biogenesis Khung c m bo th (conserved open reading frames)

Genome ty th
S lng bn sao ca genome ty th cn cha c bit r: - c t 5 10 genome/ty th. - V d: Mi ty th ca ngi c khong 10 phn t ging nhau (khong 8000/t bo), trong khi S. cerevisiae s lng ny l khong 6500, gn 100 genome /1 ty th DNA ty th tn ti ch yu dng mch vng kp, i khi c xut hin dng mch thng nh: nm men, Paramecium, Chlamydomonas.

Genome ty th
Thng tin di truyn trong genome ty th: genome ty th cha cc gen m ha cho rRNA ca ty th v mt s enzyme protein tham gia vo chui h hp. Ngoi ra, ty th cn cha cc gen m ha tRNA, protein ribosome v mt s protein khc lin quan n qu trnh phin m, dch m, v vn chuyn cc protein khc vo ty th t t bo cht.

Genome lc lp

Genome lc lp

Genome lc lp
Lc lp cha DNA dng cc phn t kp c cu trc vng. Mi lc lp cha nhiu phn t DNA, tuy nhin mi phn t DNA u cha cc gen ging nhau. Thng tin di truyn cha trong genome lc lp: hu ht genome ca lc lp c khong 200 gen. Cc gen ny m ho cho cc RNA ribosome v vn chuyn ng thi m ho cho cc protein ca ribosome v cc protein cn cho hot ng quang hp.

Cc gen ca lc lp v chc nng

Gen trnL UAA S Intron 1 Chc nng tRNA Ghi ch

TrnI - GAU
TrnA - UGC

1
1

tRNA
tRNA

TrnV - UAC
TrnG - UCC

1
1

tRNA
tRNA

TrnK - UUU
Rps12

1
3 exon

tRNA
Protein ribosome Gn Trans

AtpF1
Rps16

1
1

Bn phn t ca ATP synthase

Protein ribosome

NdhA
NdhB

1
1

Bn phn t NADH dehydrogenase

Bn phn t NADH dehydrogenase

23 Sr ADN

23S rRNA

 Ngun gc tin ha ca Lc lp v ty th?

Genome vi khun

E. coli K12
Orange squares -forward genes Yellow squares -complement genes Red arrows -rRNA Green arrows -tRNA

White ring -REP sequences Blue ring -bacteriophage protein similarity

Sunburst -CAI (codon adaptation index)

Blattner et al. 1995. Science 277:1453-74

plasmid

Plasmid

Genome virus

Th thc khun - Phage

Genome virus
Virus

ln ca DNA virus (bp)

Chiu di ca DNA virus (nm)

ng knh chiu di ca th virus (nm)

X174
T7

5.386

1.939

25

39.936

14.377

78

(lambda)

48.502

17.460

Kch c DNA ca mt s virus

c im Kch thc Genome (bp) Cc trnh t DNA lp li

Prokaryote 104-107 Mt s

Eukaryote 108-1011 Nhiu

on DNA khng m ha xen vi on m ha

Qu trnh phin m v dch m din ra ring bit

Him
Khng

Ph bin
c

DNA tch nhau ra trong nhn DNA lin kt vi protein

Vng khi ng Vng tng cng/c ch trn DNA

Khng Ch mt s t
C Him

c Nhiu loi
c Ph bin

S gn m v ui polyA vo mRNA S ct, ni mRNA

S nhim sc th

Khng Him
Mt

C Ph bin
Nhiu

Bi tp tm hiu thm: Khi nim, c ch hnh thnh hoc ng dng nghin cu ca cc on DNA trong cu trc genome

1. 2. 3. 4. 5.

Trnh t chn (IS) Microsatellite Minisatellite DNA di ng transposon Gene nhy