Can I read The CMT1A duplication: A historical perspective viewed from two sides of an ocean on EtoBox?

The CMT1A duplication: A historical perspective viewed from two sides of an ocean by James R. Lupski; Vincent Timmerman is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is The CMT1A duplication: A historical perspective viewed from two sides of an ocean about?

## From the United States I came to Houston, Texas in 1986 with one goal being to identify "the gene" for Charcot-Marie-Tooth (CMT) disease. I was peripherally aware of the paper by Botstein and colleagues [1] proposing the genetic mapping of human "disease genes" using linked restriction fragment length polymorphisms (RFLPs) to position the gene within the human genome and indeed became very excited as a graduate student when Gusella's paper [2] appeared in Nature linking the Huntington disease locus to markers on chromosome 4. It was a natural extension to think this "positional cloning" approach might be applied to a host of other human traits. There was a personal, one might say egocentric, reason to choose CMT because I have the disease [3] and, in fact, the first blood samples collected for DNA linkage studies were from my own family wherein CMT segregated as an apparent autosomal recessive trait. The year 1986 was also somewhat historic for the opportunity to attend the Cold Spring Harbor Symposium on Quantitative Biology, which that year was on "The Molecular Biology of Homo sapiens" [4]. It was there that Kary Mullis first announced publicly the polymerase chain reaction (

Who reads The CMT1A duplication: A historical perspective viewed from two sides of an ocean?

Author

James R. Lupski; Vincent Timmerman

Publisher

Walter de Gruyter GmbH

Published

2020

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)