The gene structure, function and mutation

1
???????????
The gene structure, function and mutation
2

• 1909??????????(W.Johansen)???????????????????
  ??(genotype)????(genetics)???????????
• ??(gene) ???????DNA??,???????????,????rRNA?tRNA,?
  ??????????????DNA???

3
????????????

• (?)??????
• ???(genome)????????????,????????????DNA??????

4

• ?????????(diploid),????????????????????????
• ?????????????????????(??????)?

5
1. ?????

• ??????(HBV)???(??3.2kb )

6
(No Transcript)
7
2. ???????

• ?????????????,?E.coli??,??2.4109???,???42000
  Kb??,???????,???2000???,?????DNA???????,????(nucle
  oid)?
• ????????75?DNA????,??25?DNA?????DNA(intergenic
  DNA)?????????DNA???????,?????(origin of
  replication),??????????????DNA??????????

8
3. ???????

• (1) ??????????
• ???????DNA???????????,???????
• ?????????????????????????????????mRNA?????????
• ??????,?????????

9

• ?????????????????
• ??????????,??,????????
• ????????????,????????,????????????
• ??????????????

10
2. ??????DNA?????
11
Types of repeat

• We will now look at the various types of repeated
  DNA. The basic facts are
• They may be tandem (i.e. arranged in blocks) or
  interspersed (distributed all around the
  genome).- They may be coding or non-coding,-
  Copies may be perfect or imperfect,- Origin is
  via duplication, amplification and/or
  transposition of the prototype sequence.

12
? ??DNA (Satellite DNA)

• ??????

13
?????DNA

• ???????????????DNA????????
• ???????,????????????????? ????,???????????
• ????????????(palindrome)

14

• ????(palindrome structure) ??DNA??????????,????
  ???????,??????????????? ????????
• 5'CATTATATAAG3'
• 3'GTAATATATTC5'
• ??????,??????????????????

15
? ?????????

• ?????????????????,????????????????,????RNA????????
  ????

16
3. ?????????????

• (1)?????(multigene family) ????????(ancestral
  gene)????????????????
• ?????????????????????????????????????,????
  ??????????????????

17

• ????
• ????(gene cluster) ????????????????????????????
  ???????????????????7??????3?2??3?6????

18

• ? ??????????????????????,?????????????????????,
  ?????????

19

• (2)?????(supergene family)??????????????,?????????
  ????,????????
• (3)???(pseudogene) ??????,??????????????????????

20
???????????

• (?)??????????
• ????(split gene) ????????????????,???????????????
  ???

21
?????????
????
????
????????( 5'GT?
3'AGGT -AG??)
TATA?
???
CAAT?
???
???
????
???
GC????????
?? ?
mRNA????
???
????
22
Interrupted gene
23

• 1. ???????
• ???(exon) ??????????????,???????????????
• ???(intron) ?????????????????

24
?????
25

• 2. ?????????GTAG??
• ???????????????????????????,????5'???GT??,3'???AG?
  ?,????????GTAG???
• ?RNA????GUAG,?RNA??????

26
(?)??????????????

• ???
• ???
• ???

27
???????????

• ???(transposable element)???????????????????,?????
  ???????????????????????????DNA???
• ????????????????????????

28
??????????

• ????(gene expression) ?DNA??????????,?????????????
  ????RNA???????,?????????

29
(No Transcript)
30

• ??????????????????????
• ????????????,???????

31
(?)??????????

• 1. ????????????
• ???(operon) ????????????????,?????????????,?????
  ?????????,??????????????????

32
?????(lac operon)????????
33
(1)????
?????(???)?????,???????????(????????)?
34
?????????
???????
35
(2)?????????
36
????
??????
37
(?)???????????

• 1. ??????
• 2. ???????
• 3. ??????
• 4. ???????
• 5. ??????

38
1. ??????

• ?????????????
• ????????????????,???????????????
• ?????DNA????
• ? ???????
• ? ????????????

39
2. ???????(transcriptional control)

• ? RNA?????????????????????
• ? ???????????

40
3. ??????(post-transcriptional control)

• ????RNA??????mRNA????????????????

41
4.???????(translational control)

• ???????,mRNA????,????(IF),????(EF),????(RF)???????
  ??

42
5. ??????(post-translational modification)

• ?????????????????,???????????????????
• ? ??
• ? ???????
• ? ?????

43
??????

• (?)?????????
• ????(gene mutation)??????????????,???????????,?
  ?????????

44

• ?????? ?????????????,????????????,?????????????
• ????? ????????????,???????,???????????????????,???
  ???????,???????????????

45
(?)?????????????

• 1. ????(base substitution)
• DNA???????????????????,??????(point mutation)?

46

• ??(transition) ?????????????????????????????
• ??(transversion) ??????????????

47

• ???????????
• ? ????(synonymous mutation)
• ? ????(missense mutation)
• ? ????(nonsense mutation)

48
2. ????????

• ????(frame-shift mutation) ??????DNA???,??DNA?????
  ??????????,????????????????,??????????

49
(No Transcript)
50
(No Transcript)
51
3. ????

• ????????????????
• ????????????????????,?(CAG),(CGG),?????,????????

52
(?)???????

• ??????????(?????)?????????,????,?????????????
• (1)????????????
• ????????????????????????????????????????

53

• (2)????????
• ??????(?????)?????????????????????????????????
  ??????????

54

• (3)?????????
• ????????????????????(oncogene)?????(tumor
  suppressor genes)???????????????????????????????,?
  ??????????????????

55
(?)DNA?????

• 1. ????
• ??DNA??????????

56

• 2. ?????(????)
• ?????????????????,??????????????????????
• ???????,???DNA?????,???????,??????????????

57
(No Transcript)
58
Exercises

• ?????????????????
• ????????????????,??????????????

59
Thank You !
60
(No Transcript)
61
(No Transcript)
62

• ???(promoter) ???????????(?????????????100bp???)??
  ???,??????RNA???????????,????????,????????

63
?? TATA? (TATA box) CAAT? (CAAT box) GC? (GC box)
???? ????????1927bp? ?????????7080bp ?????,????CAAT????
?? TATA(A/T)A(A/T) GG(T/C)CAATCT GGCGGG
?? ?????TF???,??????????? ?????CTF??,???? ?????SP1??,??????????
64
???

• ??????????????????,???????????????
• ??
• ??????
• ?????

65

• ???(terminator) ??????????????,???????????????????
  ??,???????????????5'-AATAAA-3'??,???????????

66
???????????????
67
(No Transcript)
68
(No Transcript)
69
(No Transcript)