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YPIE Scientist: Surbhi

Updated: Jun 10, 2022

Research: Effect of Variable Number Tandem Repeats on Gene Regulation

Awards: Somers Science Fair 2022 Participant

Mentors: Dr. Uccellini and Dr. Mansfield

Research Location: Regeneron


The human genome is made up of 27,000 base pairs, yet only 2% of the human genome is used to code for proteins, and the rest is referred to as non-coding DNA.Along with environmental factors, tandem repeats and DNA methylation can change how genes are expressed, which is studied in the field of epigenetics. A variable number tandem repeat (VNTR) occurs where two or more base pairs are repeated, and the repeats occur next to each other.Scientists have found that the length of tandem repeats can affect expression of the transcription factor ZNF558, which can regulate mitophagy gene SPATA-18. DNA methylation, like a VNTR, can affect gene expression. It occurs when a methyl group attaches itself to a cytosine base in the DNA strand itself. DNA methylation often occurs at CpG sites and is catalyzed by DNA methyltransferases (Dnmts). It is known for inhibiting transposable and viral elements, which can cause gene disruption and DNA mutation. DNA methylation is also related to chronological age as DNA methylation levels change with age. However, individual genetic or environmental exposures that drive the associations are not yet known.Similar research on DNA methylation levels on individuals who live in different climates can and should be conducted. Additional research found that methylated variable number tandem repeats (mVNTR) affect gene expression. It was found that mVNTRs can modify binding sites for DNA and chromatin-associated factors, adding onto previous research that found that VNTR lengths play a role in gene expression.The purpose of this research is to determine the role VNTR lengths play in DNA methylation levels, if any. It is predicted that larger VNTR lengths will be associated with higher levels of DNA methylation.

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