Christa Lese Martin, Ph.D., F.A.C.M.G.
Associate Professor
clmartin@genetics.emory.edu
404.727.3201
Office: 305 J
Lab: 315
Whitehead Biomedical Research Buildling
615 Michael St.
Atlanta, GA 30322

PubMed search for Dr. Christa L. Martin

Areas of Specialization/Research Interests:
Characterization of Telomere Rearrangements
Genotype/Phenotype Correlation of Genomic Imbalances
Mental Retardation and Autism
Molecular Cytogenetic Techniques

Education:
1996-1999 Post-Doctoral Training, University of Chicago
1991-1996 Ph.D., Human Genetics, University of Pittsburgh
1987-1991 B.S., Developmental Biology/Genetics, Penn State University

Research Description:
One of the main goals of our laboratory is to identify and characterize cryptic telomere and other genomic rearrangements in patients with unexplained mental retardation and autism. We are interested in (1) determining the frequency of rearrangements in these populations, (2) studying the mechanism of abnormal chromosome formation and (3) correlating genotype changes with phenotypic consequences. The delineation of genotype/phenotype correlations is important for clinical diagnosis and prognosis and will help in determining which regions of the genome are tolerant to dosage imbalance versus those that are pathogenic. We are specifically interested in characterizing rearrangements involving the telomeric regions of human chromosomes. We have developed a “molecular ruler” strategy, which consists of clones equally spaced from the telomere of each chromosome up to 5 Mb, which we use to delineate the sizes of telomere rearrangements. By comparing the size of the deletion or duplication with the corresponding phenotype from multiple cases involving the same chromosome, we are developing clinical correlations for telomere rearrangements. Another interest of our laboratory is the development of new technologies for more efficient identification of genomic imbalances. Towards this goal, we are in the process of validating the use of Comparative Genomic Hybridization Arrays (CGH-A).

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Selected Publications:
Lese CM, Fantes JA, Riethman HC, Ledbetter DH: Characterization of physical gap sizes at human telomeres. Genome Res 9(9):888-894, 1999.

Knight SJL*, Lese CM* (*denotes equal contribution), Precht K, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Martin Lawrie N, Cardy DLN, Nguyen H, Hudson TJ, Riethman H, Ledbetter DH, Flint J: An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet, 67(2):320-332, 2000.

Das, S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE: Partial paternal uniparental disomy of chromosome 6 associated with neonatal diabetes. Am J Hum Genet, 67(6):1586-1591, 2000.

Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM: Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): Two-years of post market experience and review of the literature. Prenatal Diagnosis, 21:293-301, 2001.

Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RSK, Christian SL, Ledbetter DH: Organization of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet, 39(3):170-7, 2002.

Lese Martin C*, Wong A* (*denotes equal contribution), Gross A, Chung J, Fantes JA, Ledbetter DH: The evolutionary origin of human subtelomeric homologies (…or where the ends begin). Am J Hum Genet,70:972-984, 2002.

Lese Martin C*, Waggoner DJ* (denotes equal contribution), Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH: “Molecular rulers” for calibrating phenotypic effects of telomere imbalance. J Med Genet 39(10):734-740, 2002.

Huang B, Lese Martin C, Sandlin CJ, Wang S, Ledbetter DH: Mitotic and meiotic instability of a telomere association involving the Y chromosome. Am J Med Genet, 2004, in press.
Mewborn SK, Lese Martin C, Ledbetter DH: The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions. Cytogenetic and Genome Research, 2004, in press.

Wong A, Vallender EJ, Heretis K, Ilkin Y, Lahn BT, Lese Martin C, Ledbetter DH: Diverse fates of paralogs following segmental duplication of telomeric genes. Genomics, 2004, in press.

Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C: Comparative Genomic Hybridization array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages, Am J Hum Gent, 2004, in press.