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Department of Genetics Newsletter - Spring 2009

Congratulations!


Mark HeiseMark Heise was awarded a Jefferson-Pilot Fellowship in Academic Medicine. He was one of only three recipients of this award in 2008.
Mark has also been promoted to Associate Professor with tenure in the Department of Genetics and the Department of Microbiology and Immunology.

 




Kathleen CaronKathleen Caron was also one of the Jefferson-Pilot fellowship awardees this past year. In addition, Kathleen has been awarded a UCRF Innovation Award to explore the role of lymphatics in tumor metastasis, a March of Dimes grant to study the interactions between fetal trophoblast cells and maternal uterine natural killer cells during implantation and placentation, and an American Heart Association Established Investigator Award for her investigation of genetic mechanisms that underlie gender-dependent differences in cardioprotection.
Kathleen has recently been promoted to Associate Professor with tenure in the Department of Cell and Molecular Physiology and the Department of Genetics.


AAAS LogoTerry Magnuson was elected as a fellow of the American Association for the Advancement of Science. He was recognized “for sustained and important contributions to mouse developmental genetics, including creating methodologies and strains for wide use, and identifying genes important for embryo development.”

 

Faculty Activities

 

 

Offbiotechactivities

Jim Evans is Chair of the SACGHS (Secretary's Advisory Committee on Genetics, Health, and Society) Task Force on Gene Patents and Licensing Practices. The period for public comment on the draft report has just closed, and the committee will be deliberating over the next few months in order to make final recommendations to the Secretary of HHS about the subject. The draft can be accessed at http://oba.od.nih.gov/SACGHS/sacghs_public_comments.html.

 

New Faculty (Assistant Professors)

 

Jonathan Berg
Jonathan Berg - Jonathan just joined us from Baylor College of Medicine, where he was Assistant Professor in the Department of Molecular and Human Genetics. He earned his BS degree in Biology at Emory University and then entered the MD-PhD program here at UNC-Chapel Hill. He received his PhD from the Curriculum in Neurobiology in 2001, working with Dr. Richard Cheney (Department of Cell and Molecular Biology), and his MD with Distinction in 2003. He carried out his residency training in Medical Genetics at Baylor. Jonathan is an attending physician in the Cancer Genetics Clinic and will be carrying out clinical/translational research. He holds a joint appointment in the Department of Medicine, Division of Hematology/Oncology.

Derek Chiang - Derek received his BS degree in Chemistry as a Morehead Scholar at UNC-Chapel Hill. He obtained his PhD at the University of California at Berkeley in Molecular and Cell Biology, with Designated Emphasis in Genomics and Computational Biology. Just prior to joining us back at Chapel Hill, he was a Postdoctoral Researcher at the Broad Institute of Harvard and MIT, under the supervision of Dr. Matthew Meyerson. Derek's research focus is on the genetics of hepatocellular carcinoma. His lab is located in the Lineberger Comprehensive Cancer Center.

Yun Li - Yun has recently accepted a position in the department, and we expect her to be here in the early fall of this year. She will have a joint appointment in the Department of Biostatistics. Yun did her undergraduate work at Shanghai Jiao Tong University and has Master's degrees in Communication Studies and Applied Statistics from Bowling Green State University in Ohio. She is just about to receive her Ph.D. in Biostatistics at the University of Michigan, where she has been working with Drs. Gonçalo Abecasis and Michael Boehnke. She has developed a novel method for imputation of unknown genotypes that has already been used in several major genome-wide association studies, including a collaboration with Karen Mohlke and colleagues in the FUSION study of type 2 diabetes.

 

New Joint Appointments

 

Karen WeckKaren Weck - Karen is an MD whose primary appointment is as an Associate Professor in the Department of Pathology and Laboratory Medicine. She is Medical Director of the Molecular Genetics Laboratory in the McLendon Clinical Laboratories at UNC Hospitals. Her research interests are in pharmocogenetic testing, as well as testing for hereditary disorders and diagnosis and monitoring of viral infections. She has been collaborating with Jim Evans and with Howard McLeod, Director of the UNC Institute for Pharmacogenomics and Individualized Therapy (IPIT).

 


Jessica BookerJessica Booker - Jessica is a PhD received her postdoctoral training in Clinical Molecular Genetics at UNC and is now Director of that training program. She is currently Assistant Professor in the Department of Pathology and Laboratory Medicine and Scientific Director of the Molecular Genetics Laboratory at UNC Hospitals. Her research interests are in diagnostic testing for genetic disorders, particularly for BRCA1 and BRCA2 mutations. She has also collaborated with Jim Evans and with Karen Weck.

 

 

Cecile SkryzyniaCécile Skrzynia - Cécile is an Assistant Professor in the Department of Medicine, Division of Hematology and Oncology, and is Director of Adult and Cancer Genetic Counseling Services. She worked as a research technician and then research analyst at UNC prior to earning her MS in Genetic Counseling. She established the Cancer Genetics Counseling service here, primarily to assist women with family histories of breast cancer soon after testing for mutations in the BRCA1 and BRCA2 genes became available. She has been instrumental in obtaining funding for uninsured patients that enables them to have genetic testing done. The Cancer Genetics Clinic has broadened into an adult genetics clinic that provides counseling for patients with a variety of familial cancer predisposition syndromes and other adult genetic disorders.

 

 

Research Highlights

 

Sundeep Kalantry, Sonya Purushothaman, Randall Bryant Bowen, Joshua Starmer and Terry Magnuson, "Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation," has recently been accepted for publication in Nature.

One of the two X chromosome in female eutherian mammals is inactivated in order to equalize gene dosage with XY males. This X chromosome inactivation (XCI) process is one of the most striking examples of epigenetic regulation. There is strong evidence that XCI is triggered by the expression of the non-coding Xist RNA from the X chromosome that will be inactivated in a given cell and its progeny. There is imprinted XCI in mouse embryos, resulting in preferential inactivation of the paternal X-chromosome. Kalantry et al. report here on their studies on imprinted XCI in mouse embryos that lack the paternally inherited Xist gene. They found that inactivation of the paternal X is initiated even in the absence of this gene, although Xist is required for stabilization of inactivation.



Telomere fusions in C. elegans analyzed by Mia Lowden and others in Shawn Ahmed's lab

End-to-end fusion of chromosomes is a well-known type of abnormality that can give rise to a "breakage-fusion-bridge " cycle of chromosomal instability. C. elegans provides a good model for study of such fusions because the chromosomes are holocentric, making it possible to isolate and maintain stable lines containing them. Lowden et al. have analyzed the types of fusion events that arise in mutants lacking telomerase activity. They found that direct telomere–telomere fusions were infrequent, representing only 3% of the fusion breakpoints. The others were telomere-subtelomere (44%) or subtelomere-subtelomere (53%) fusions. Their results show that direct ligation may not be the major mechanism for the formation of end-to-end fusions that result from telomere attrition and that most of these fusion events may involve complex recombination events.

LowdenEtAl
Figure 2.—Characterization of outcrossed end-to-end chromosome fusions. (A) Fusion breakpoints of 38 X-autosome end-to-end chromosome fusions, as determined by linkage analysis. Different chromosomes are depicted as rectangles in various colors with green squares representing telomeres at every chromosome end. Genetic names of each independent fusion are to the right of their fusion orientation. End-to-end fusions that were amenable to PCR are indicated in boldface type and underlined.

Lowden MR, Meier B, Lee TW, Hall J, Ahmed S. End joining at Caenorhabditis elegans telomeres. Genetics. 2008. 180:741-54.






Amy Webb, Kirk Wilhelmsen and collaborators find association between certain "tauopathies" and an inversion containing the microtubule-associated protein tau gene

Pick complex diseases are a clinically related group of neurodegenerative disorders, some forms of which contain tau inclusions and are referred to as tauopathies. There are some families in which these disorders are inherited and in which mutations have been found in the MAPT gene on chromosome 17. There is a common inversion of this chromosomal region in the white population; the inverted region includes MAPT and several other genes, which gives rise to two haplotypes (H1 and H2) that are in complete linkage disequilibrium. Webb et al. performed a high-density association scan on patients with nonfamilial Pick complex diseases and controls, focusing on the markers contained in the region including and surrounding tau. As shown in Fig. 2B, the inversion (the H2 haplotype), seems to offer protection against PSP and CBD. This association exists across the entire inverted interval on chromosome 17 for PSP and CBD cases. It is considered likely that something in the inverted region is affecting expression of the tau gene and, ultimately, disease status.

WebbEtAl
Fig. 2B. The genotypes for all samples across the region of interest. (Heavy black vertical lines represent boundaries of the inversion, which is ~1.2 Mb in length.) Each row corresponds to a sample. The samples were sorted based on diagnosis and haplotype similarity. Samples with mostly blue, or major, alleles have the H1 haplotype, and samples with mostly yellow, or minor, alleles have the H2 haplotype. Samples with mostly red, or heterozygote, alleles are H1/H2. CBD indicates corticobasal degeneration; FTD, frontotemporal dementia; MND, motor neuron disease; and PSP, progressive supranuclear palsy.

Webb A, Miller B, Bonasera S, Boxer A, Karydas A, Wilhelmsen KC. (2008) Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. Arch Neurol. 65:1473-8.

 

Recent Publications

Ahmed, S

 

 
Asokan, A

 

 
Ayslworth, AS

 

 
Bultman, SJ

 

 
Caron, KM

  • Dunworth WP, Caron KM. (2009) G protein-coupled receptors as potential drug targets for lymphangiogenesis and lymphatic vascular diseases. Arterioscler Thromb Vasc Biol. 29:650-6.

  • Dunworth WP, Fritz-Six KL, Caron KM. (2008) Adrenomedullin stabilizes the lymphatic endothelial barrier in vitro and in vivo. Peptides. 29:2243-9.

  • Li M, Wu Y, Caron KM. (2008) Haploinsufficiency for adrenomedullin reduces pinopodes and diminishes uterine receptivity in mice. Biol Reprod. 79:1169-75.

 

Evans, JP

  • Langley MR, Booker JK, Evans JP, McLeod HL, Weck KE. (2009) Validation of clinical testing for warfarin sensitivity: comparison of CYP2C9-VKORC1 genotyping assays and warfarin-dosing algorithms. J Mol Diagn. 11:216-25.

  • Evans JP. (2009) The voyage continues: Darwin and medicine at 200 years. JAMA. 301:663-5.

  • Evans JP. (2008) Recreational genomics; what's in it for you? Genet Med. 10:709-10.

 

 
Heise, MT

 

 
Koller, BH

 

 
Lange, EM

 

 
Lange, LA

 

 
Magnuson, TR

 

 
Majesky, MW

 

 
Matera, AG

 

 
Miller, VL

  • Walker KA, Miller VL. (2009) Synchronous gene expression of the Yersinia enterocolitica Ysa type III secretion system and its effectors. J Bacteriol. 191:1816-26.

  • Lawrenz MB, Lenz JD, Miller VL. A novel autotransporter adhesin is required for efficient colonization during bubonic plague. (2009) Infect Immun. 77:317-26.

  • Witowski SE, Walker KA, Miller VL. (2008) YspM, a newly identified Ysa type III secreted protein of Yersinia enterocolitica. J Bacteriol. 190:7315-25.

 

 
Mohlke, KL

 

 
Muenzer, J

 

 
Pardo-Manuel de Villena, F

 

 
Perou, CM

 

 
Pomp, D

 

 
Pevny, LH

 

 
Powell, CM

 

 
Rathmell, WK

 

 
Richards, KL

 

 
Sharpless, NE

 

Sullivan, PF

 

 
Sun, W

 

Threadgill, DW

 

Van Dyke, T

 

 

 
Wilhelmsen, KC

 

 

 
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