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Mechanism of protein sor0ng in Drosophila Shan Luan 29 Oct 2012

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Page 1: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Mechanism  of  protein  sor0ng  in  Drosophila  

Shan  Luan  29  Oct  2012  

Page 2: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Receptor-­‐dependent  protein  sor0ng  

Maria  Francisca  Cou0nho,  Maria  João  Prata,  Sandra  Alves,  (2012)  Mannose-­‐6-­‐phosphate  pathway:  A  review  on  its  role  in  lysosomal  func0on  and  dysfunc0on.  Molecular  Gene1cs  and  Metabolism,  Volume  105,  Issue  4,  Pages  542-­‐550  

Page 3: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

From:  Boman,  A.L.  (2001)  J.  Cell  Sci.  114:  3413-­‐3418  

Model  for  cargo  retrival    •   A  unique  adaptor  protein  is          -­‐  iden0fied  in  yeast  two  hybrid  protein  interac0on  with  ADP  ribosyla0on  factor-­‐binding  3  (ARF3)        -­‐  iden0fied  by  expressed  sequence  tag  (EST)  database  for  genes  encoding  proteins  with  VHS  (Vps27p,  Hrs  and  STAM)  and  ear  domain.    •   Monomeric  clathrin  adaptors    

•   GGA:  Golgi-­‐localized,  gamma-­‐ear-­‐containing,  ARF-­‐binding    

Page 4: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGAs  

•  2  GGA  family  proteins  in  yeast  (not  essen0al)    •  3  GGA  family  proteins  in  mammals  (RNAi  in  cultured  cells-­‐not  essen0al)    •  1  GGA  family  protein  in  nematodes  (not  essen0al)    •  1  GGA  family  protein  in  flies  (no  muta6ons  were  established,  RNAi  knockdown  showed  lethality)  

Page 5: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Research  Ques0on:      Is  GGA  essen0al  in  Drosophila?  What  is  GGA  essen0al  for?    

Page 6: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

P-­‐element  excision-­‐mediated  muta0on  

Page 7: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  mutant  allele  

Page 8: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  

[                  ]  

Lethal  maps  between  8C8  and  8C12,  500  kb  to  the  lee  of  GGA.  

Dp(1;3)DC203  [8C4-­‐8C13]    

Mapping  lethality  in  GGA  muta0on    

Page 9: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Remove  lethal  muta0on  from  GGAp1  

y   sn   v   g   f  

sn+  y+   L   GGAP1   v+   g+   f+  

sn  y   L+   GGA+   v   g   f  

GGAp1  allele    

Mapping  allele  

Page 10: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Screen  for  sn  and  v+  males  by  PCR    

GGA  fwd   GGA  rev  

9          10        11        12        15        1            2          3            4            5              6          7            8          GGAp1    wt  Wt                  4470bp  GGAp1        3270bp  

Page 11: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGAP1  does  not  cause  age-­‐dependent  re0nal  degenera0on.  

Wild type " ey/GMR-Gal4; dGGA RNAi2, "

GGAP1;Dp(1;3)DC203" w1118;Dp(1;3)DC203"

Adult flies were aged 14 days at 25C.  

Page 12: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Is  GGAP1  a  null  muta0on?  

Page 13: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  Targeted  Knockout  Allele  of  dGGA  

Page 14: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Screen  for  GGA  null  allele  

PXH  up  85    135      

 PXH  down    85    135        

GGA  2200   Ac0n  primers  wt                          29        70        72          85      112      135   wt      29      70      72      85    112  135  

wt  GGA  

GGA  2200  826bp  

Hsp>mini-­‐white  EYFP  

PXH  up   PXH  up   PXH  down   PXH  down  

1kb  

3824bp   3458bp  

GGA  KO  //   //   //   //  

Page 15: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGAΔ  are  viable  and  fer0le    

Page 16: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Test  semi-­‐lethality  of  the  GGAΔ  and  GGAP1  alleles  

Crosses   F1  ♀  heterozygous  

F1  ♂   P-­‐Value  

☿GGAΔ  X  ♂GGA+   229   183  0.5310  

☿GGA+  X  ♂GGAΔ   223   195  

☿GGAP1  X  ♂GGA+   192   174  0.7815  

☿GGA+  X  ♂GGAP1   259   225  

Page 17: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Mini-­‐GGA  transgene  complements  GGAΔ  flies.  

P{GGA+}  

Page 18: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

dGGA  Knockout  Muta0on  Fails  to  Rescue  RNAi  Knockdown  of  dGGA  

☿GGAΔ;  Act5C-­‐Gal4/CyO                X            ♂  yw;  GGA-­‐RNAi2.    

Only  GGAΔ;  +/CyO;  +/GGA-­‐RNAi2    

Suggest  previous  observed  lethality  in  RNAi  Knockdown  is  off  target.  

Page 19: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Receptor-­‐dependent  protein  sor0ng  

Maria  Francisca  Cou0nho,  Maria  João  Prata,  Sandra  Alves,  (2012)  Mannose-­‐6-­‐phosphate  pathway:  A  review  on  its  role  in  lysosomal  func0on  and  dysfunc0on.  Molecular  Gene1cs  and  Metabolism,  Volume  105,  Issue  4,  Pages  542-­‐550  

Page 20: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Cathepsin  L  and  cathepsin  D  processing  are  not  impaired  in  GGA  null  flies.  

Page 21: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  in  lysosomal  func0on  

1)  Compromise  lysosome,  decrease  enzyme  efficiency  

2)  Further  reduce  GGA  3)  Chloroquine  in  cell  leads  to  lysosomal  pH  

increase.  4)  10mM  Chloroquine  is  toxic  in  flies.      We  fed  chloroquine  to  GGA  mutant  flies.        

Page 22: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  mutant  flies  are  hypersensi0ve  to  dietary  chloroquine  (20mM).  

                                   A:  GGA+(5.25  days  n=97)                            B:  GGAΔ  ;p{GGA+}A2      (4.98  days  n=161)  C:  GGAΔ;p{GGA+}E2  (4.45  days  n=151)                                                GGAΔ    (2.9  days  n=181)                            GGAΔ    (2.9  days  n=181)                                                          GGAΔ    (2.9  days)        

P-­‐value<0.0001     P-­‐value<0.0001    P-­‐value<0.0001    

Page 23: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

 Eissenberg  JC,  Ilvarsonn  AM,  Sly  WS,  Waheed  A,  Krzyzanek  V,  Pohlmann  R,  Waschkau  D,  Kretzchmar  D,  Dennes  AC.  Drosophila  GGA-­‐model:  An  ul0mate  gateway  to  GGA  analysis.  Traffic.  (2011)  12:1821-­‐1838.  

Bchs  Overexpression  

Page 24: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  knockout  enhances  the  eye  phenotype  caused  by  Bchs  overexpression.  

P-­‐value  <0.001  

P-­‐value  <0.05  

10  heads  per  sample  and  triplicate  

Page 25: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

GGA  mutant  flies  are  hypersensi0ve  to  amino  acid  starva0on.  

               A:GGA+  (13.65  days  n=202)                              B:  GGAΔ  ;p{GGA+}A2      (14.92  days  n=131)            C:  GGAΔ;p{GGA+}E2  (16.4  days  n=144)                          GGAΔ    (11.29  days  n=212)                    GGAΔ    (11.29  days  n=212)                                                              GGAΔ    (11.29  days  n=212)        

P-­‐value<0.0001     P-­‐value<0.0001    P-­‐value<0.0001    

Page 26: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Summary    •  GGA  is  not  essen0al  in  survial.  •  First  report  of  a  targeted  knockout  of  an  X-­‐linked  gene  using  Chen  (2009)’s  

method.  •  In  GGAΔ  flies,  there  is  no  detectable  defect  in  cathepsinL  or  cathepsinD  

processing.  •  in  GGAP1  or  GGAΔ  flies,  there  is  no  evidence  for  age-­‐dependent  re0nal  

degenera0on.  •  GGAΔ  flies  is  hypersensi0e  to  dietary  chloroquine,  suppor0ng  a  model  in  which  

GGA  family  proteins  contribute  to  lysosomal  homeostasis  under  stress  condi0ons.  

•  GGAΔ  with  Bchs  overexpression  flies  enhanced  the  eye  phenotype,  sugges0ng  that  dGGA  could  directly  or  indirectly  be  involved  in  the  process  of  autophagy.  

•  GGAΔ  flies  are  hypersensi0ve  to  amino  acid  starva0on,  consistent  with  impaired  autophagy.  It  is  the  first  hint  GGA  is  required  in  evolu0on.  

Page 27: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Ongoing  projects:    Proteins  poten0ally  involved  in  sor0ng  lysosomal  hydrolases.  

Page 28: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

From:  Boman,  A.L.  (2001)  J.  Cell  Sci.  114:  3413-­‐3418  

Model  for  cargo  retrival  

Page 29: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Lysosomal  enzyme  receptor  protein  (LERP)  

•  Homolog  to  mannose  6-­‐phosphate  receptors  (MPR)  in  mammals  

•  Rescue  missor0ng  of  soluable  lysosomal  enzymes  in  MPR-­‐deficient  cells  

•  However,  ligand  recogni0on  does  not  depend  on  mannose  6-­‐phosphate.  

   

Page 30: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Research  ques0on:    Is  Lerp  essen0al  in  survival?    Does  Lerp  func0on  in  sor0ng  lysosomal  hydrolases  or  sor0ng  others  e.g.  IGF2?    How  does  Lerp  func0on  in  sor0ng  lysosomal  hydrolases?  

Page 31: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  P-­‐element  Excision-­‐mediated  Allele  of  Lerp  

Page 32: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  P-­‐element  Excision-­‐mediated  Allele  of  Lerp  

w1118;  Mi{ET1}LerpMB05321   x   yw;  CyO,  HoP2/Bc1        

w1118;  CyO,  HoP2;  Mi{ET1}LerpMB05321    ♂    

 ♂    

yw;  Bl1/TM3Ser   x  

☿  

☿  

Collect  male  or  female:    Lerp?/TM3Ser  for  PCR  screening    

Page 33: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  Targeted  Knockout  Allele  of  LERP  

Page 34: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

AP-­‐1  •  Adaptor  protein  complex  1  (AP-­‐1)  is  a  heterotetramer  composed  of  

AP1ϒ,  AP1β,  AP1μ1,  AP1δ1.      •  the  ‘ear’  domain  of  the  γ-­‐subunit  of  AP-­‐1  shares  homology  to  the  C-­‐

terminal  GAE  (γ-­‐adap0n  ear)  domain  of  GGA  and  interacts  with  clathrin.  

 •  Muta0ons  in  GGA  are  not  lethal.    •  Transposable  element  inser0on  at  AP-­‐1  gamma  is  lethal.      Previous  literatures  suggested  two  hypothesis:    1.  GGA  and  AP-­‐1  func0on  redundantly  in  sor0ng  lysosomal  hydrolases.    2.  GGA  binds  receptors  on  Golgi  and  hands  off  the  proteins  to  AP-­‐1.    

Page 35: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Ap-­‐1γ  

w1118;Dp(1;3)DC203  [8C4-­‐8C13]    

Is  Ap-­‐1γ  lethality  due  to  Ap-­‐1γ  muta0on?  

PBac  {w+=RB}  Ap-­‐1γ  Y  

;    Dp(1:3)DC(203)  +   are  viable.    

Page 36: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  P-­‐element  Excision-­‐mediated  Allele  of  AP-­‐1  gamma  

Page 37: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Genera0on  of  a  P-­‐element  Excision-­‐mediated  Allele  of  AP-­‐1  gamma  

w[1118]  PBac{w[+mC]=RB}AP-­‐1gamma[e04546]/FM7ywaB  

w[1118]  PBac{w[+mC]=RB}AP-­‐1gamma[e04546]/FM7c   x   FM7ywaB;  CyO,  HoP2/+  

FM7ywaB    ♂    

 ♂    

x  

☿  

☿  

Collect  male  or  female:    AP-­‐1gamma?/FM7ywaB  for  PCR  screening    

Page 38: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Thank  you!    Biochemistry  &  Molecular  Biology  Saint  Louis  University  School  of  Medicine  Joel  C.  Eissenberg  Anne  M.  Ilvarsonn  Abdul  Waheed  Medina  Kran0c  

       Biology  Department  Saint  Louis  University  William  S.  Stark  

Page 39: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Remove  lethal  muta0on  from  GGAp1  y   sn   v   g   f  

♂    y1sn3  v1  g2  f1  ☿    y,  l,  GGAp1;  Dp(1:3)DC(203)   X  

y1  sn3  v1  g2  f1      y,  l,  GGAp1                  

☿   X   ♂  yw  ;Dp(1:3)DC(203)    

♂    y1sn3  v+  g+  f+;    Dp(1:3)DC(203)  or  +  +  

X    y,l,GGAp1    FM7�GFP  ☿  

                 y,l,GGAp1                                  y1sn3  GGAp1?  v+  g+  f+  ☿   ;  +  

Page 40: committee meeting 29Oct2012-3starklab.slu.edu/JCE/ShanCmteOct2012.pdfSummary* * • GGA*is*notessen0al*in* survial. • Firstreportof*atargeted*knockoutof*an*Xlinked*gene*using*Chen*(2009)’s*

Dietary  chloroquine  impairs  lysosome-­‐mediated  proteolysis.  

LAMP-GFP on normal foodLAMP-GFP on food + 10 mM chloroquine (36 h)