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Old 08-26-2012
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Default Gene product fn

A 7- year old boy is brought to physician because of mass in his upper thigh. An x ray of the right femur shous a lesion in diaphysis. The mass is surgically resected. Microscopic examination of the mass shows small, blue cells with small amount of cytoplasm. Genetic analysis shows a t(11,22)(q24;q12) translocation. The gene product produced by this translocation most likely functions as which of the following?

A. Cyclin-dependent Kinase
B. Growth factor
C. Growth factor receptor
D. Signal-transducing protein
E. Transcription factor

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Old 08-26-2012
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Post E

answer is e) transcription factor
the t(11:22) is seen in ewing's sarcoma--EWS-FLI1 .....
and also there is other translocation too in ewing's......t(21:22) with cd99 +ve
a. CDK ---seen in mantle cell lymphoma...t(11:14)
b,C growth factor---EGF,fibroblast growth factor,VEGF,PDGF
D---signal transducing----many G-protein coupled disorders,vWB disease.....
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Old 08-26-2012
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Originally Posted by venky2600 View Post
answer is e) transcription factor
the t(11:22) is seen in ewing's sarcoma--EWS-FLI1 .....
and also there is other translocation too in ewing's......t(21:22) with cd99 +ve
a. CDK ---seen in mantle cell lymphoma...t(11:14)
b,C growth factor---EGF,fibroblast growth factor,VEGF,PDGF
D---signal transducing----many G-protein coupled disorders,vWB disease.....

Aaa.....
Agreed with venky2600 but the translocation is on chromosome 11 which is used by cyclinD for cell cycle regulation.
Its the translocation that cause unregulated cell cycle with ewirng sarcoma.
Hope am right?
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Old 08-26-2012
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Quote:
Originally Posted by imgchuchu View Post
Aaa.....
Agreed with venky2600 but the translocation is on chromosome 11 which is used by cyclinD for cell cycle regulation.
Its the translocation that cause unregulated cell cycle with ewirng sarcoma.
Hope am right?
yes, chr.11 is used by cyclin D...
it is chr 22(FLI1) gene responsible for transcription dysregulation of proteins... both 11 and 22 cause turning on and off of trancription abnormally leading to unregulated cell cycle(abnormalk proliferation)..
.it is somatic mutation only and is not inherited...

and also chr.11 is associated with othe mutations like long arm terminal deletion in neuroblastoma,jacobsen syndrome and also imprinting in beckwid weidmann syndrome.......
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Old 03-10-2016
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Originally Posted by koolkiller88 View Post
A 7- year old boy is brought to physician because of mass in his upper thigh. An x ray of the right femur shous a lesion in diaphysis. The mass is surgically resected. Microscopic examination of the mass shows small, blue cells with small amount of cytoplasm. Genetic analysis shows a t(11,22)(q24;q12) translocation. The gene product produced by this translocation most likely functions as which of the following?

A. Cyclin-dependent Kinase
B. Growth factor
C. Growth factor receptor
D. Signal-transducing protein
E. Transcription factor

Plz do share your brain impulses information...
. In pediatric Ewing’s sarcoma a chromosomal translocation generates a fusion of the 5’ transactivation domain of EWS with the 3’ Ets domain of Fli-1. The resulting fusion oncoprotein, EWS/Fli-1, acts as an aberrant transcriptional activator.[4] with strong transforming capabilities.
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