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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

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.


Research in Dr. Buchner's laboratory is focused on understanding the genetics and pathophysiology of obesity and diabetes. Although we are in the midst of an obesity epidemic, most genetic susceptibility factors have yet to be discovered. The lab combines both in vivo and in vitro approaches to better understand the mechanisms that influence susceptibility to metabolic disease. There are currently two main projects in the lab. The first is focused on the epigenetic basis of parental and transgenerational effects on offspring disease susceptibility. The second project is focused on the molecular and biochemical regulation of insulin-stimulated glucose uptake by adipoctyes.

Parental and Transgenerational Effects on Obesity and Diabetes

The genes of one's ancestors can have a significant impact on food intake and body weight for multiple generations through a heritable epigenetic mechanism. The Buchner lab is currently utilizing mouse models and next generation sequencing to further explore the relatively unknown genetic and molecular mechanisms that underlie this mode of inheritance.

Regulation of Insulin-Stimulated Glucose Uptake

Hyperglycemia and type 2 diabetes are associated with impaired glucose homeostasis. The major insulin-stimulated glucose transporter Glut4 is a key molecule in the regulation of glucose uptake in adipose tissue as well as in skeletal and cardiac muscle. As the function of Glut4 is impaired in metabolic disease, the lab is interested understanding the regulation of Glut4 expression, and how it is affected in disease.

Selected Publications

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; (In Press)
See PubMed abstract

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

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

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

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

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

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

Buchner DA, Geisinger JM, Glazebrook PA, Morgan MG, Spiezio SH, Kaiyala KJ, Schwartz MW, Sakurai T, Furley AJ, Kunze DL, Croniger CM, Nadeau JH (2012)
The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity.
Mamm Genome;23(7-8):431-42
See PubMed abstract

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

Buchner DA, Yazbek SN, Solinas P, Burrage LC, Morgan MG, Hoppel CL, Nadeau JH (2011)
Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance.
Obesity (Silver Spring);19(5):917-24
See PubMed abstract

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

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 (2007)
pak2a mutations cause cerebral hemorrhage in redhead zebrafish.
Proc Natl Acad Sci U S A;104(35):13996-4001
See PubMed abstract

Buchner DA, Trudeau M, Meisler MH (2003)
SCNM1, a putative RNA splicing factor that modifies disease severity in mice.
See PubMed abstract