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Genetics Faculty


David Buchner
Assistant Professor
Department of Genetics
School of Medicine
Case Western Reserve University
Biomedical Research Building 627
2109 Adelbert Road
Cleveland, Ohio 44106-4935
Tel: (216) 368-1816
Fax: (216) 368-1835
E-mail: david.buchner@case.edu


About David Buchner

David Buchner received his Ph.D. in Human Genetics from the University of Michigan in Dr. Miriam Meisler's lab where he identified and characterized a modifier gene for neurological disease. He did postdoctoral fellowships in the labs of Dr. David Ginsburg (HHMI, University of Michigan) and Dr. Joe Nadeau (Case Western Reserve University) where he used animal models to identify novel disease genes for bleeding disorders and metabolic disease. He continued studying the pathophysiology of obesity and diabetes while working as an Assistant Research Scientist in Dr. Alan Saltiel's lab in the Life Sciences Institute at the University of Michigan. David joined the faculty at the Case Western Reserve University School of Medicine in 2013 as an Assistant Professor in the Department of Genetics and Genome Sciences with a secondary appointment in the Department of Biochemistry and the Research Institute for Children's Health.


Research

The Buchner lab combines studies of rare human disorders with animal and cellular modeling to identify new disease genes and discover their underlying molecular mechanisms. To accomplish this, we use classic cell biology approaches with newer genomic technologies. Although the lab is broadly interested in the genetics of endocrine disorders, our particular molecular focus is on the role of adipocytes in glucose homeostasis and type 2 diabetes.

Projects:

1) The molecular basis of glucose regulation in adipocytes

Adipocytes are the body's primary site for lipid storage and act as signaling centers to coordinate the physiological response to an organism's nutritional and metabolic state. Adipocytes are therefore central to the pathogenesis of obesity and type 2 diabetes. My lab is interested in better understanding the genes and molecules that govern adipocyte function, including how these cells respond to the hormone insulin. We have identified novel transcriptional regulators that are central to the function of adipocytes and continue to understand the mechanism of how these genes govern insulin sensitivity, and how many genes together function to regulate this complex molecular process.

Representative publications:

Chen A, Liu Y, Williams SM, Morris N, Buchner DA. (2017)
Widespread epistasis regulates glucose homeostasis and gene expression.
PLOS Genetics; 13:e1007025.

Charrier A, Wang L, Stephenson EJ, Ghanta SV, Ko CW, Croniger C, Bridges D, Buchner DA. (2016)
Zinc finger protein 407 overexpression upregulates PPAR-target gene expression and improves glucose tolerance in mice.
Am J Physiol Endocrinol Metab; 311:E869-80.

2) Identification of novel disease genes underlying pediatric endocrine disorders

To date, only half of the genes underlying monogenic disorders have been identified. The identification of novel disease genes can benefit patients by creating opportunities for prenatal genetic counseling, improving clinical diagnoses, solving diagnostic odysseys, and helping to discover new therapeutic targets. In addition, we can learn more about normal and pathological development and gene function. Our lab combines genomics approaches including whole exome and whole genome sequencing with animal and cellular studies to identify novel genetic cause of pediatric endocrine disorders including reproduction and fertility, short stature, and hypoglycemia, among others.

Representative publication:

Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, Hoppel CL, Salz HK, Lupski JR, Buchner DA. (2018)
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Human Molecular Genetics; 27(11):1913-1926.


Selected Publications

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, Hoppel CL, Salz HK, Lupski JR, Buchner DA
Human Molecular Genetics (2018); (In Press)
See PubMed abstract

Widespread epistasis regulates glucose homeostasis and gene expression.
Chen A, Liu Y, Williams SM, Morris N, Buchner DA
PLoS Genet (2017);13(9):e1007025
See PubMed abstract

Coordinated transcriptional control of adipocyte triglyceride lipase (Atgl) by transcription factors Sp1 and peroxisome proliferator-activated receptor ╬│ (PPAR╬│) during adipocyte differentiation.
Roy D, Farabaugh KT, Wu J, Charrier A, Smas C, Hatzoglou M, Thirumurugan K, Buchner DA
J Biol Chem (2017);292(36):14827-14835
See PubMed abstract

Zinc finger protein 407 overexpression upregulates PPAR target gene expression and improves glucose homeostasis in mice.
Charrier A, Wang L, Stephenson EJ, Ghanta SV, Ko CW, Croniger CM, Bridges D, Buchner DA
Am J Physiol Endocrinol Metab (2016);311(5):E869-E880
See PubMed abstract

Transgenerational inheritance of metabolic disease.
Stegemann R, Buchner DA
Semin Cell Dev Biol (2015);43:131-40
See PubMed abstract

Contrasting genetic architectures in different mouse reference populations used for studying complex traits.
Buchner DA, Nadeau JH
Genome Res (2015);25(6):775-91
See PubMed abstract

Zinc Finger Protein 407 (ZFP407) Regulates Insulin-stimulated Glucose Uptake and Glucose Transporter 4 (Glut4) mRNA.
Buchner DA, Charrier A, Srinivasan E, Wang L, Paulsen MT, Ljungman M, Bridges D, Saltiel AR
J Biol Chem (2015);290(10):6376-86
See PubMed abstract

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis.
Yazbek SN, Buchner DA, Geisinger JM, Burrage LC, Spiezio SH, Zentner GE, Hsieh CW, Scacheri PC, Croniger CM, Nadeau JH
Genome Res (2011);21(7):1065-73
See PubMed abstract

Ancestral paternal genotype controls body weight and food intake for multiple generations.
Yazbek SN, Spiezio SH, Nadeau JH, Buchner DA
Hum Mol Genet (2010);19(21):4134-44
See PubMed abstract

pak2a mutations cause cerebral hemorrhage in redhead zebrafish.
Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D, Lyons SE
Proc Natl Acad Sci U S A (2007);104(35):13996-4001
See PubMed abstract

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.
Buchner DA, Trudeau M, Meisler MH
Science (2003);301(5635):967-9
See PubMed abstract