Download ABSTRACT Holoprosencephaly (HPE) is the most common

BIOGRAPHICAL NOTES
ABSTRACT
Holoprosencephaly (HPE) is the most common structural anomaly of the
Academic Studies:
B. Sc. University of British Columbia, 1992
M. Sc. University of Toronto, 1999
human brain, resulting from incomplete cleavage of the developing forebrain during
embryogenesis. Haploinsufficient mutations in TG-Interacting Factor (TGIF) were
GRADUATE STUDIES
previously identified in a subset of HPE families and sporadic patients, and this gene
is located within a region of Chromosome 18 that is associated with non-random
chromosomal aberrations in HPE patients. TGIF is a transcription factor that
contains a three amino acid loop extension (TALE) homeodomain and functions
both as a co-repressor of the TGF- pathway and as a competitor of the retinoic
Field of Study:
Courses
MEDG520
MEDG530
MEDG540
Medical Genetics
Advanced Human Molecular Genetics
Molecular & Cellular Biology of Cancer
Seminar
Instructors
Dr. Brown & Dr. Simpson
Dr. Takei
Dr. Dill & Dr. Brown
acid pathway. Mice made deficient for Tgif exhibited laterality defects and growth
retardation, and developed kinked tails. Analysis of Tgif
-/-
mouse embryonic
fibroblasts (MEFs) in vitro demonstrated that Tgif regulates proliferation and
progression through the G1 cell cycle phase. Wild-type human TGIF was able to
rescue this proliferative defect in MEFs. In contrast, a subset of human Tgif
mutations detected in HPE patients was unable to rescue the proliferative defect.
AWARDS
NIH Travel Scholarship, Holoprosencephaly Conference, 2004
Keystone Symposia Travel Scholarship, 2004
Albert B. and Mary Steiner Travel Award, UBC, 2004
Department of Medical Genetics Retreat Poster Award, UBC, 2003
Effie I Lefeaux Scholarship in Mental Retardation, 2001
However, an absence of Tgif did not alter the normal inhibition of proliferation
caused by treatment with TGF- or retinoic acid. Developmental control of
proliferation by Tgif may play a role in the pathogenesis of HPE.
PUBLICATIONS
Mar, L and Hoodless, PA. Embryonic fibroblasts from mice lacking Tgif were
defective in cell cycling. Mol Cell Biol. 26(11):4302-4310.
PRESENTATIONS
Mar, L. and Hoodless, PA. Characterization of the Tgif knockout mouse. Third NIH
Conference on Holoprosencephaly (HPE): Midline and Laterality Development.
April 18-20, 2004, National Institutes of Health, Bethesda, Md., USA.
Mar, L. and Hoodless, PA. Functional analysis of the Tgif knockout mouse.
Northwest Developmental Biology Conference. March 18-20, 2004. Friday
Harbor Laboratories, Wa., USA.
SUPERVISORY COMMITTEE
Dr. Pamela A. Hoodless, Research Supervisor (Medical Genetics)
Dr. Connie Eaves (Medical Genetics)
Dr. Rob Kay (Medical Genetics)
Dr. Muriel Harris (Medical Genetics)
T HE UNIVERS IT Y OF BRIT ISH COLUMBIA
PROGRAMME
The Final Oral Examination
For the Degree of
DOCTOR OF PHILOSOPHY
(Medical Genetics)
LYNN MAR
M.Sc. University of Toronto, 1999
Tuesday, July 25, 2006, 4 pm
Room 200, Graduate Student Centre
“Role of TGIF in Cell Cycle Control and Establishment of Laterality”
EXAMINING COMMITTEE
Chair:
Dr. Wolfram Tetzlaff (Zoology)
Supervisory Committee:
Dr. Pamela A. Hoodless, Research Supervisor (Medical Genetics)
Dr. Connie Eaves (Medical Genetics)
University Examiners:
Dr. Wan L. Lam (Pathology & Laboratory Medicine)
Dr. Jan M. Friedman (Medical Genetics)
External Examiner:
Dr. James C. Cross
The University of Calgary
Calgary, AB