Our Science

Harold C. Riethman, Ph.D.

Harold C. Riethman, Ph.D.

  • Associate Professor, Molecular and Cellular Oncogenesis Program
  • 215-898-3872, Office

The laboratory of Harold C. Riethman engages in the study of telomeres, the tips of chromosomes. These structures are important for replicating chromosomes and for maintaining the integrity of the genome. The Riethman lab isolated and analyzed telomeric DNA as part of the Human Genome Project. His research group was responsible for the cloning, mapping, and collaborative DNA sequencing efforts for each of the 41 genetically distinct human subtelomeric regions. They are currently involved in the analysis of telomere dysfunction to gain a better understanding of the role it plays in the aging process and the development of certain cancers.

Riethman joined The Wistar Institute in 1990 as an assistant professor. Prior to that, he was a National Institutes of Health postdoctoral fellow at Washington University in St. Louis, MO. He earned his bachelor’s degree in biological sciences in 1982 from the University of Cincinnati, OH, and his master’s degree from there the following year. He was awarded a Ph.D. in biological sciences from the University of Missouri in 1987. Riethman is also a Wistar Institute Associate Professor of Human Genetics at the University of Pennsylvania School of Medicine, an active member of the Genomics and Computational Biology Graduate Group, and part of the Penn Genomic Frontiers Institute and Penn Institute on Aging.

The Riethman laboratory is focused on analyzing the structure, function, and evolution of mammalian telomere regions to better understand their role in disease. Because telomeres help control when cells divide, Riethman is interested in how telomere dysfunction and telomeric DNA mutations contribute to diseases such as developmental defects, aging, and cancer.

Selected Publications

1 - Deng Z, Wang Z, Stong N, Plasschaert R, Moczan A, Chen HS, Hu S, Wikramasinghe P, Davuluri RV, Bartolomei MS, Riethman H, Lieberman PM. A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection. EMBO J. 2012 Nov 5;31(21):4165-78. doi: 10.1038/emboj.2012.266. Epub 2012 Sep 25. PMID: 23010778.

2 - Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB., Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients., Journal of Medical Genetics. 2010 Oct 23., 20972251

3 - Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID., Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".[Comment], American Journal of Medical Genetics. Part A. 2010 Jun;152A(6):1599., 20503345

4 - Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID., Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20., American Journal of Medical Genetics. Part A. 2010 Feb;152A(2):373-82., 20101690

5 - Butts S, Riethman H, Ratcliffe S, Shaunik A, Coutifaris C, Barnhart K., Correlation of telomere length and telomerase activity with occult ovarian insufficiency., Journal of Clinical Endocrinology and Metabolism. 2009 Dec;94(12):4835-43. [Epub 2009 Oct 28] , 19864453

6 - Deng Z, Norseen J, Wiedmer A, Riethman H, Lieberman PM., TERRA RNA binding to TRF2 facilitates heterochromatin formation and ORC recruitment at telomeres., Molecular Cell. 2009 Aug 28;35(4):403-13., 19716786

7 - Riethman H., Human subtelomeric copy number variations., Cytogenetic and Genome Research. 2008;123(1-4):244-52., 19287161

8 - Tsipouri V, Schueler MG, Hu S; NISC Comparative Sequencing Program, Dutra A, Pak E, Riethman H, Green ED., Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genome., Genome Biology. 2008 Oct 28;9(10):R155., 18957082

9 - Riethman H., Human Telomere Structure and Biology., Annual Review of Genomics and Human Genetics. 2008; 9:1-19., 18466090

10 - Descipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H., Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals., American Journal of Medical Genetics. Part A. 2008 March 15; 146(6):730-739., 18257100

11 - Ambrosini A, Paul S, Hu S, Riethman H., Human subtelomeric duplicon structure and organization., Genome Biology 2007; 8(7):R151., 17663781