Eric

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January 19th Lab Methods in Genomics

Story of Trisomy 21

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Ts65DnDown Syndrome mouse model
T1DS/T2N -twin 1 down syndrome/twin 2 normal
MZ1/MZ2
-supernumerary
RPKM-reads per kilobase million -gives you a normal for comparison

LADs are overtranscribed in down syndrome when they should have low expression

Think replication time and transcription levels are correlated, genes transcribed earlier are expressed lower and later transcribed are more expressed

Not just the overexpression of chromosome 21. It is the consequence of these products causing the LADs to be expressed higher. Effects of changing chromatin structure


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Molecular characterization of Ts65Dn


Ts65Dn is the mouse model for trisomy 21 in humans

distal= further away from the centromere

Think that chromosome 16 and 17 were combined via NHEJ but there is a small overlap region of 7 bp that might have had a role in determining the 16/17 breakpoint