Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.

The () gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3' end of the strand.

Martynas Yčas: The "Archivist" of the RNA Tie Club.

Between about 1951 and the early 1960s, the basic structure of molecular biology was revealed. Central to our understanding was the unraveling of the various roles of RNA, culminating in the identification of messenger RNA (mRNA) and the deciphering of the genetic code. We know a great deal about the role of Brenner, Crick, Jacob, and Nirenberg in these discoveries, but many others played important supporting parts.

Why Is DNA Double Stranded? The Discovery of DNA Excision Repair Mechanisms.

The persistence of hereditary traits over many generations testifies to the stability of the genetic material. Although the Watson-Crick structure for DNA provided a simple and elegant mechanism for replication, some elementary calculations implied that mistakes due to tautomeric shifts would introduce too many errors to permit this stability. It seemed evident that some additional mechanism(s) to correct such errors must be required.

A Physicist's Quest in Biology: Max Delbrück and "Complementarity".

Max Delbrück was trained as a physicist but made his major contribution in biology and ultimately shared a Nobel Prize in Physiology or Medicine. He was the acknowledged leader of the founders of molecular biology, yet he failed to achieve his key scientific goals. His ultimate scientific aim was to find evidence for physical laws unique to biology: so-called "complementarity.

Genetic counseling for thalassemia in the Islamic Republic of Iran.

The response of groups to pressing medical problems cannot be predicted on theoretical grounds. An example is the program for the control of beta-thalassemia in Iran, a country with a tradition of inbreeding and a conservative religious culture, and in which thalassemia is common. Thalassemia is largely treatable, but the treatment is lifelong and onerous and creates a serious economic burden for the individual family and for the national health budget.

PubMed, the New York Times and the Chicago Tribune as tools for teaching genetics.

An elementary course in human heredity for students not planning to major in the sciences can be based on current scientific literature and on the popular media. Examinations are constructed from questions on recent abstracts obtained from PubMed. The course is designed to promote writing skills in the sciences, and students write two papers in the course of a quarter.

Getting around.

This essay is a response to a request from the Editor for a "historical reflection" relating to work on DNA repair from my laboratory. The writing has been an interesting exercise since it made me recall the people I have worked with and some of the things we found and the many we missed. In the course of the writing, an article was published in The New York Review of Books, which argued that there is a "pervasive dishonesty in the practice of science" relating to the authorship of scientific papers.

The "A" rule revisited: polymerases as determinants of mutational specificity.

Organisms control the specificity and frequency with which they mutate via their complement of proteins. The mismatch repair (MMR) proteins correct errors after they are made. The DNA polymerases of the cell determine the response to damaged DNA which has not been repaired by excision.