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Thread: Nucleotide variants and Obesity

  1. #1 Nucleotide variants and Obesity 
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    Genes associated with obesity were significantly enriched for rare nucleotide variants. Here, we
    examined these variants and revealed that they are located near splice junctions and tend to affect exonic splicing
    regulatory sequences. We also show that the majority of the exons that harbor these SNPs are constitutively spliced,
    yet they exhibit weak splice sites, typical to alternatively spliced exons, and are hence suboptimal for recognition by
    the splicing machinery and prone to become alternatively spliced. Using ex vivo assays, we tested a few
    representative variants and show that they indeed affect splicing by causing a shift from a constitutive to an
    alternative pattern, suggesting a possible link between extreme body mass index and abnormal splicing patterns. ( Amir Goren, Eddo Kim, Maayan Amit, et al. , 2007)
    1. What is the difference between constitutive and alternate splicing?

    2. SNP's are merely sequence variations, I presume?

    3. Exons are the part of genes that are translated, correct?


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  3. #2  
    Forum Cosmic Wizard i_feel_tiredsleepy's Avatar
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    1. constitutive splicing would be a gene that always gets spliced the same way, alternative splicing can occur with some RNAs that are spliced differently under different condition.

    2. SNP means one nucleotide is different.

    3. yes



    Sorry I'm struggling to properly explain alternative splicing.

    Basically alternative splicing is when you can splice a gene to get different combinations of the blocks of colour, constitutive means the RNA will always be spliced the same.


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  4. #3  
    Forum Cosmic Wizard paralith's Avatar
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    To help tiredsleepy out a bit, after RNA is transcripted from DNA, the introns must be cut out and the remaining exons stuck back together. For some genes, however, different introns will be cut out under different conditions. Sometimes intron 1 and intron 3 are cut out while intron 2 is left in, other times intron 1 and 3 are left in and only intron 2 is cut out, etc. With constitutive splicing, though, introns 1 through 3 will always be cut out no matter what.
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