MUTATION OF THE VESICULAR MONOAMINE TRANSPORTER-1 GENE ALTERS ITS PROTEIN PRODUCT

The vesicular monoamine transporter 1 (VMAT1) is essential for storage of monoamines, such as epinephrine and serotonin, in secretory vesicles of neuroendocrine cells. Recently the VMAT1 protein was detected in human and mouse brain, and mutations of the VMAT1 gene at single DNA nucleotides (single nucleotide polymorphisms or SNPs) were associated with schizophrenia. In this study, Chinese hamster ovarian cells were stably transfected with either human VMAT1 DNA (GenBank: #NM_003053.1 or DNA with the Thr4Pro SNP, which results in a threonine to proline change in amino acid number 4 of the VMAT1 protein. Western blot analysis revealed that cells with the SNP produced immunoreactive human VMAT1 proteins of altered molecular size, suggesting that SNP Thr4Pro modifies either folding or processing of the VMAT1 protein. This finding is the first evidence for biochemical consequences of a mutation in the human VMAT1 gene.

Name thesis:degree_name

Master of Science

Level thesis:degree_level

Thesis

Discipline thesis:degree_discipline

Biology

Year dc:date.available

2010

Author dc:creator

• Watson-Siriboe, Abena

Contributors dc:contributor

• Jennifer Stewart

• VMAT1
• A277C
• Thr4Pro
• Schizophrenia
• Biology
• Life Sciences

Statement dc:rights

• © The Author

Identifier

https://scholarscompass.vcu.edu/etd/77

OAI identifier oai:identifier

oai:scholarscompass.vcu.edu:etd-1076