James L Resnick

James L Resnick,

Professor

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

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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

  1. GMS6001 – Fundamentals of Biomedical Sciences I

    College of Medicine

  2. BMS6003 – Genetics and Health

    College of Medicine

  3. GMS6013 – Developmental Genetics

    College of Medicine

  4. BCH7412 – Epigenetics of Human Disease and Development

    College of Medicine

  5. GMS7980 – Research for Doctoral Dissertation

    College of Medicine

  6. GMS6905 – Independent Studies in Medical Sciences

    College of Medicine

  7. GMS6331 – Stem Cell Biology

    College of Medicine

  8. GMS5905 – Special Topics in Biomedical Sciences

    College of Medicine

Publications

Academic Articles

Grants

  1. A mouse model to assess genetic therapies for Prader-Willi syndrome

    Role:
    Principal Investigator
    Funding:
    FOU FOR PRADER-WILLI RESEARCH
  2. Imprinting defects leading to Angelman and Prader Willi syndromes

    Role:
    Principal Investigator
    Funding:
    NATL INST OF HLTH NINDS

Education

  1. Postdoctoral

    Princeton University

  2. Graduate student

    University of Pittsburgh

  3. B.A.

    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