Zinc transporter SLC30A2 genetic variations and health implications
| dc.contributor.author | Castillo San Juan, Sandra | |
| dc.contributor.examiningcommittee | Ramprasath Ramkumar, Vanu (Human Nutritional Sciences) Diehl-Jones, William (Nursing, Biological Sciences) | en_US |
| dc.contributor.supervisor | Friel, James (Human Nutritional Sciences) Eck,Peter (Human Nutritional Sciences) | en_US |
| dc.date.accessioned | 2014-03-11T22:46:51Z | |
| dc.date.available | 2014-03-11T22:46:51Z | |
| dc.date.issued | 2014-03-11 | |
| dc.degree.discipline | Human Nutritional Sciences | en_US |
| dc.degree.level | Master of Science (M.Sc.) | en_US |
| dc.description.abstract | The SLC30A2 zinc transporter has been investigated due to its important role in zinc secretion into human milk. SLC30A2 is expressed in mammary epithelial cells, and the presence of genetic variations in this transporter could cause low zinc transport into the milk, leading to Transient Neonatal Zinc Deficiency (TNZD) in newborns. Through bioinformatics analysis 22 SNPs were identified. Therefore, we aim to identify the functional changes caused by 4 SNPs. By subcloning the SLC30A2 open reading frames into the Gateway expression plasmid tagged with red and green fluorescent proteins (mCherry, tGFP). Four SNPs were introduced by mutagenesis and tagged with mCherry. We transfected individual plasmids into mammary epithelial cells (HC11) and observed cellular targeting using epifluorescent imaging. The most common variants located to secreting endosomes and membrane in HC11 cells. Incorrect targeting of SLC30A2 causes mislocalization. It may be possible to identify mothers carrying risk genotypes for infant zinc deficiency. | en_US |
| dc.description.note | May 2014 | en_US |
| dc.identifier.uri | http://hdl.handle.net/1993/23337 | |
| dc.language.iso | eng | en_US |
| dc.rights | open access | en_US |
| dc.subject | Transient Neonatal Zinc Deficiency | en_US |
| dc.subject | Single Nucleotide Polymorphisms | en_US |
| dc.title | Zinc transporter SLC30A2 genetic variations and health implications | en_US |
| dc.type | master thesis | en_US |