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Series GSE114207 Query DataSets for GSE114207
Status Public on Nov 01, 2018
Title Mice Harboring the Human SLC30A8 R138X Loss-of-Function Mutation Have Increased Insulin Secretory Capacity
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary SLC30A8 encodes a zinc transporter that is primarily expressed in the pancreatic islets of Langerhans. In beta-cells it transports zinc into insulin-containing secretory granules. Loss-of-function (LOF) mutations in SLC30A8 protect against type 2 diabetes in humans. In this study, we generated a mouse model carrying one of the most common human LOF mutations for SLC30A8, R138X. The R138X mice had normal body weight, glucose tolerance and pancreatic beta-cell mass. Interestingly, in hyperglycemic conditions induced by the insulin receptor antagonist S961, the R138X mice showed a 50% increase in insulin secretion. This effect was not associated with enhanced beta-cell proliferation or beta-cell mass. Our data suggest that the SLC30A8 R138X LOF mutation in humans may protect from type 2 diabetes in part by increasing the capacity of beta-cells to secrete insulin.
 
Overall design Gene expression profiling of SLC30A8 R138X mutation and wild type mice in pancreatic islets
 
Contributor(s) Kleiner S, Xin Y, Gromada J
Citation(s) 30038024
Submission date May 08, 2018
Last update date Mar 21, 2019
Contact name Yurong Xin
E-mail(s) yurong.xin@regeneron.com
Organization name Regeneron Pharmaceuticals, Inc.
Street address 777 Old Saw Mill River Road
City Tarrytown
State/province NY
ZIP/Postal code 10598
Country USA
 
Platforms (1)
GPL17021 Illumina HiSeq 2500 (Mus musculus)
Samples (9)
GSM3137803 Wildtype_1
GSM3137804 Wildtype_2
GSM3137805 Wildtype_3
Relations
BioProject PRJNA470551
SRA SRP145021

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE114207_gene_rpkm.txt.gz 660.0 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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