DNA Replication and Genetic Research: An Honorary Issue in Memory of Prof. James L. German

Dear Colleagues,

This Special Issue is dedicated to Dr. James L. German in recognition of his remarkable contributions to the field of human genetics and chromosome biology.

Dr. James L. German was a physician and a scientist. He was an early pioneer in human genetics. Beginning in 1959, he entered human genetics through the field of cytogenetics. Dr. German discovered and characterized the chromosome instability phenotype in Bloom’s syndrome, and he established the linkage between chromosome instability and cancer predisposition. Dr. German devoted a substantial portion of his scientific career to the comprehensive characterization of the natural history of Bloom’s syndrome through the Bloom’s Syndrome Registry, which he used to investigate the clinical consequences of genomic instability. In the 1990s, Dr. German and his laboratory members identified the gene mutation in Bloom’s syndrome, which they called BLM. BLM is a member of the RecQ family of DNA helicases, which are implicated in various pathways of nucleic acid metabolism. We have since learned that the null mutations in BLM disable cells’ ability to disentangle many different substrates generated in the homologous recombination repair pathway, affecting processes in the S, G2, and mitotic phases of the cell cycle. Bloom’s syndrome represents a class of human diseases referred to as “chromosome breakage syndromes” that includes Fanconi anemia, ataxia–telangiectasia, Nijmegen breakage syndrome, Rothmund Thomson syndrome, and Werner syndrome. Remarkably, these clinically distinct human disorders are caused by mutations in genes encoding enzymes implicated in pathways of DNA replication and repair responsible for the maintenance of genomic stability.  In addition, these diseases are often associated with cancer predisposition.

To honor Professor German’s contributions to the field, this Special Issue aims to review the instrumental role of molecular genetic analyses to improve our current understanding of the pathogenesis of chromosomal instability syndromes, and the role of DNA replication and repair in chromosome integrity and cellular homeostasis. In addition, we would like to discuss the functional crosstalk between genomic instability and cancer susceptibility. In this Special Issue of Cells, we invite your contributions, in the form of original research articles or reviews, on all aspects related to recent advances in the fields of genetic diseases characterized by DNA replication defects and/or genomic instability

Dr. Sudha Sharma
Dr. Robert M. Brosh, Jr.
Dr. Nathan A. Ellis
Guest Editors

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