Characterization of Drosophila EP3105 LINE: Potential Disease Model for Sly Syndrome

Halder, Sudipta (2014) Characterization of Drosophila EP3105 LINE: Potential Disease Model for Sly Syndrome. Masters thesis, Indian Institute of Science Education and Research Kolkata.

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Characterization of the Drosophila P-Element insertion line EP3105 in CG2135 reveals lethal nature of the allele, when inherited recessively. The lethality is demonstrated at the larval stage. Homozygous larvae show reduced CG2135 transcript levels, severe growth stunting and the lack of distinct fat bodies. It is expected that a reduction in transcript levels will result in further lowering of the translated product, resulting in GUSB deficiency. The recessive lethal allele in Drosophila resembles the recessive nature of the disease in humans. Growth stunting of the mutant larvae correlates with delayed development observed in MPS VII children. Mouse and feline MPS VII models are found to have scarce subcutaneous adipose tissue. This observation is in agreement with the lack of distinct fat body observed in the mutant larvae. So far, the fly strain has been successful in mimicking the human disease at least at the root of the disease, i.e. GUSB deficiency. Further investigation on GUSB activity, CG2135 protein levels, presence of any neurological phenotype, estimation of fat content as well as estimation of mucopolysaccharide levels and others are required to establish the fly strain as loss of function mutant of CG2135 and most importantly, as an insect model for Sly Syndrome. The fly strain can also be used to investigate on the fat storage deficiency, as to how a lysosomal enzyme deficiency can result in decrease in fat content and growth arrest.

Item Type: Thesis (Masters)
Additional Information: Supervisor: Mohit Prasad
Uncontrolled Keywords: Disease Model; Drosophila; Drosophila EP3105 LINE; Sly Syndrome
Subjects: Q Science > QH Natural history > QH301 Biology
Divisions: Department of Biological Sciences
Depositing User: IISER Kolkata Librarian
Date Deposited: 16 Jan 2015 05:39
Last Modified: 16 Jan 2015 05:39

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