James L Resnick

James L Resnick,

Professor

Department: Molecular Genetics & Microbiology
Business Phone: (352) 392-3258
Business Email: jresnick@ufl.edu

About James L Resnick

Fun fact: I am a habitual solver of the New York Times Sunday crossword puzzle. About 150 mammalian genes are subject to genomic imprinting, the selective silencing of one parent’s alleles. Most imprinted genes are found in clusters containing both maternally and paternally expressed genes. Prader-Willi syndrome and Angelman syndromes are clinically distinct neurodevelopmental disorders resulting from a cluster of imprinted genes located at 15q11-q13. Disruptions to paternal gene expression result in PWS, while disruption of the maternally expressed gene UBE3A leads to AS. At this locus two DNA elements, the PWS-IC and the AS-IC, are necessary for parent-of-origin allele identity and for parental-allele specific gene expression. Using engineered mutations in mice, we identified the molecular activity and development stage at which the PWS-IC functions. We also identified the mouse sequence orthologous to the AS-IC which enabled us to determine its molecular function. These novel mouse mutants also serve as disease models to better understand these two disorders.

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Teaching Profile

Courses Taught
2013-2025
GMS6001 Fundamentals of Biomedical Sciences I
2019-2025
BMS6003 Genetics and Health
2019,2021
GMS6013 Developmental Genetics
2013,2015-2018
BCH7412 Epigenetics of Human Disease and Development
2018
GMS7980 Research for Doctoral Dissertation
2017
GMS6905 Independent Studies in Medical Sciences
2014-2016
GMS6331 Stem Cell Biology
2023-2025
GMS5905 Special Topics in Biomedical Sciences

Publications

2024
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.
Biochimica et biophysica acta. Molecular basis of disease. 1870(5) [DOI] 10.1016/j.bbadis.2024.167175. [PMID] 38626828.
2022
Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
Journal of clinical medicine. 11(14) [DOI] 10.3390/jcm11144033. [PMID] 35887798.
2021
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Genes. 12(6) [DOI] 10.3390/genes12060875. [PMID] 34200226.
2019
A mouse model of Angelman syndrome imprinting defects.
Human molecular genetics. 28(2):220-229 [DOI] 10.1093/hmg/ddy345. [PMID] 30260400.
2018
Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.
Human molecular genetics. 27(23):4051-4060 [DOI] 10.1093/hmg/ddy296. [PMID] 30124848.
2018
Role of epigenetic mechanisms in transmitting the effects of neonatal sevoflurane exposure to the next generation of male, but not female, rats.
British journal of anaesthesia. 121(2):406-416 [DOI] 10.1016/j.bja.2018.04.034. [PMID] 30032879.
2017
Paradoxical leanness in the imprinting-centre deletion mouse model for Prader-Willi syndrome.
The Journal of endocrinology. 232(1):123-135 [PMID] 27799465.
2015
Adenine nucleotide translocase 4 is expressed within embryonic ovaries and dispensable during oogenesis.
Reproductive sciences (Thousand Oaks, Calif.). 22(2):250-7 [DOI] 10.1177/1933719114542026. [PMID] 25031318.
2015
Angelman syndrome imprinting center encodes a transcriptional promoter.
Proceedings of the National Academy of Sciences of the United States of America. 112(22):6871-5 [DOI] 10.1073/pnas.1411261111. [PMID] 25378697.
2015
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter.
Proceedings of the National Academy of Sciences of the United States of America. 112(22) [DOI] 10.1073/pnas.1500034112. [PMID] 25588880.
2014
Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.
Epigenetics. 9(11):1540-56 [DOI] 10.4161/15592294.2014.969667. [PMID] 25482058.
2013
Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.
Clinical and translational science. 6(5):347-55 [DOI] 10.1111/cts.12083. [PMID] 24127921.
2013
Recommendations for the investigation of animal models of Prader-Willi syndrome.
Mammalian genome : official journal of the International Mammalian Genome Society. 24(5-6):165-78 [DOI] 10.1007/s00335-013-9454-2. [PMID] 23609791.
2013
Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.
PloS one. 8(2) [DOI] 10.1371/journal.pone.0052390. [PMID] 23390487.
2012
Immunomagnetic purification of murine primordial germ cells.
Methods in molecular biology (Clifton, N.J.). 925:61-6 [DOI] 10.1007/978-1-62703-011-3_4. [PMID] 22907490.
2012
Temporal and developmental requirements for the Prader-Willi imprinting center.
Proceedings of the National Academy of Sciences of the United States of America. 109(9):3446-50 [DOI] 10.1073/pnas.1115057109. [PMID] 22331910.
2011
A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.
Human molecular genetics. 20(17):3461-6 [DOI] 10.1093/hmg/ddr262. [PMID] 21659337.
2011
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.
PLoS genetics. 7(12) [DOI] 10.1371/journal.pgen.1002422. [PMID] 22242001.
2010
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.
Neurogenetics. 11(2):145-51 [DOI] 10.1007/s10048-009-0226-9. [PMID] 19894069.
2010
Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome.
The European journal of neuroscience. 31(1):156-64 [DOI] 10.1111/j.1460-9568.2009.07048.x. [PMID] 20092561.
2009
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.
Human molecular genetics. 18(22):4227-38 [DOI] 10.1093/hmg/ddp373. [PMID] 19656775.
2008
The Roles of E2F6 and Dna Methylation in the Regulation of Gene Expression During Germ Cell Development
.
2007
A targeted deletion upstream of Snrpn does not result in an imprinting defect.
Mammalian genome : official journal of the International Mammalian Genome Society. 18(4):255-62 [PMID] 17514346.
2006
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.
Human molecular genetics. 15(3):393-404 [PMID] 16368707.
2006
DNA methylation is a primary mechanism for silencing postmigratory primordial germ cell genes in both germ cell and somatic cell lineages.
Development (Cambridge, England). 133(17):3411-8 [PMID] 16887828.
2005
DNA methylation is required for silencing of ant4, an adenine nucleotide translocase selectively expressed in mouse embryonic stem cells and germ cells.
Stem cells (Dayton, Ohio). 23(9):1314-23 [PMID] 16051982.
2004
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.
Human molecular genetics. 13(23):2971-7 [PMID] 15459179.
2003
Continuing primordial germ cell differentiation in the mouse embryo is a cell-intrinsic program sensitive to DNA methylation.
Developmental biology. 258(1):201-8 [PMID] 12781693.
1999
Activin and TGFbeta limit murine primordial germ cell proliferation.
Developmental biology. 207(2):470-5 [PMID] 10068477.
1999
Differentiation of murine premigratory primordial germ cells in culture.
Biology of reproduction. 61(4):1146-51 [PMID] 10491656.
1998
A mouse model for Prader-Willi syndrome imprinting-centre mutations.
Nature genetics. 19(1):25-31 [PMID] 9590284.
1998
Primordial germ cells, stem cells and testicular cancer.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica. 106(1):134-41 [PMID] 9524571.
1998
Role of fibroblast growth factors and their receptors in mouse primordial germ cell growth.
Biology of reproduction. 59(5):1224-9 [PMID] 9780331.
1995
Two CDC25 homologues are differentially expressed during mouse development.
Development (Cambridge, England). 121(7):2047-56 [PMID] 7635051.
1992
Characterization of activated and normal mouse Mos gene in murine 3T3 cells.
Oncogene. 7(12):2489-98 [PMID] 1461652.
1992
Developmental abnormalities in Steel17H mice result from a splicing defect in the steel factor cytoplasmic tail.
Genes & development. 6(10):1832-42 [PMID] 1383087.
1992
Long-term proliferation of mouse primordial germ cells in culture.
Nature. 359(6395):550-1 [PMID] 1383830.
1991
Requirement for mast cell growth factor for primordial germ cell survival in culture.
Nature. 352(6338):809-11 [PMID] 1715518.

Grants

May 2019 – Nov 2022
A mouse model to assess genetic therapies for Prader-Willi syndrome
Role: Principal Investigator
Funding: FOU FOR PRADER-WILLI RESEARCH
Jul 2013 – Mar 2020
Imprinting defects leading to Angelman and Prader Willi syndromes
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS

Education

Postdoctoral
1982-1986 · Princeton University
Graduate student
1976-1982 · University of Pittsburgh
B.A.
1972-1976 · Colgate University

Contact Details

Phones:
Business:
(352) 392-3258
Emails:
Business:
jresnick@ufl.edu
Addresses:
Business Mailing:
PO Box 100266
GAINESVILLE FL 32610
Business Street:
RG-295 ARB
GAINESVILLE FL 32610