Dataset Information

Bilkent University

ABSTRACT: Bilkent University - the first private, nonprofit university in Turkey - was founded on October 20, 1984, by Professor Ihsan DoGramacI, M.D., with the fundamental aim of creating a center of excellence in higher education and research. The Department of Molecular Biology and Genetics provides undergraduate and graduate courses in basic and applied areas of molecular biology and genetics. The department is equipped with modern facilities for gene analysis, cell biology, protein chemistry, recombinant DNA technology and animal experiments. The education is research oriented. The main research activities of the department are on molecular genetics, molecular biology, molecular cell biology, molecular virology, molecular immunology, structure-function relationship of proteins and new biotechnologies.

PROVIDER: EGAO00000000026 | EGA |

REPOSITORIES: EGA

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Publications

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner Suleyman S Tekinay Ayse Begum AB Doerschner Katja K Boyaci Huseyin H Bilguvar Kaya K Unal Hilal H Ors Aslihan A Onat O Emre OE Atalar Ergin E Basak A Nazli AN Topaloglu Haluk H Kansu Tulay T Tan Meliha M Tan Uner U Gunel Murat M Ozcelik Tayfun T

Genome research 20110901 12

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological a ...[more]

PMID: 21885617

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Project description:Germanos M1*. Yau B1*. Taper M1. An Y1. Yeoman C1. Wilson A1. Cattin-Ortolá J2. Maslar D3. Tong J1. Naghiloo S1. Needham E4. Diaz-Vegas A4. Larance M1. Thomas H5. Seidah NG6. von Blume J7. James DE4. Thorn P1. Ailion M2. Asensio C3. Kebede MA1. 1 School of Medical Sciences, Charles Perkins Centre, The University of Sydney, Camperdown, New South Wales, Australia. 2 Department of Biochemistry, University of Washington, Seattle, WA USA. 3 Department of Biological Sciences, University of Denver, Denver, Colorado 80210, United States. 4 Discipline of Biochemistry and Molecular Biology, School of Life and Environmental Sciences, Charles Perkins Centre, The University of Sydney, Camperdown, New South Wales, Australia. 5 Department of Medicine, St Vincent's Hospital, University of Melbourne, Fitzroy, Melbourne, Victoria, Australia. 6 Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada. 7 Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06510.. *These authors contributed equally. Abstract Here we investigate the role of Cab45 in β-cell function and insulin secretory granule (ISG) biogenesis. Cab45 has been known as a ubiquitously expressed, soluble, trans-Golgi network (TGN) resident protein. We demonstrate its expression in pancreatic islets but not exocrine tissue, and localization in both Golgi and granular/vesicular compartments of primary β-cells. In INS1 cells, Cab45 is held in the cis-Golgi by a calcium-dependent mechanism but is capable of anterograde trafficking beyond the TGN. ISG biogenesis is maintained in Cab45 knockout INS1 cells which exhibit insulin hypersecretion due to dysregulated calcium homeostasis, leading to ISG depletion that is reinstated by rest at low glucose or Cab45 overexpression. Overexpressed Cab45 traffics directly into ISGs and increases biogenesis. Expression of a Cab45 variant that cannot bind calcium drives superior ISG rescue and has reduced ISG residency. In humans, anterograde Cab45 trafficking increases with worsening obesity, suggesting recruitment to drive cargo transit and support secretory output. Humans with type 2 diabetes, however, contain a greater proportion of Cab45-occupied ISGs and a loss of Golgi-localized Cab45 compared to non-diabetics. These insights position Cab45 as an exciting candidate for further investigation into mechanisms associated with β-cell compensation and failure.

Dataset Information

Bilkent University

Publications

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

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