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Blog of the ECFGs
Alkaptonuria at last. By Miguel Penalva
By 1994, the human genome project was in its cradle, and many genes involved in disease remain to be identified. Amongst them was the gene for alkaptonuria (AKU), the prototypic Garrod’s inborn error of metabolism. AKU results from deficiency of homogentisate deoxygenase (HGO), one of the key enzymes in the phenylalanine degradation pathway. AKU Behaves as a Mendelian-recessive character. While the disease is very rare (one child every 250,000 births) the consequences are severely debilitating, as the substrate of the deficient reaction accumulates in the connective tissue of large joints causing a progressive degeneration that, until very recently, was rather…
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Blog of the ECFGs
Nils Ronald Morris July 22, 1933 – November 20, 2025
Ron Morris Xin Xiang, Berl Oakley, Claudio Scazzocchio and Miguel A. Peñalva Ron Morris (N. Ronald Morris) passed away at home on November 20, 2025, at the age of 92. Ron was a first-class scientist who understood, very early on, that mutant screens in Aspergillus nidulans could illuminate fundamental problems of cell biology and devoted himself to apply this approach in his landmark studies on the cytoskeleton, mitosis and nuclear distribution. His group identified the first alpha- and beta-tubulin genes, which paved the way for the identification, a few years later, of gamma-tubulin (Oakley, B.R. (2023). The ring saga: looking back at the discovery…
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Blog of the ECFGs
Aspergillus nidulans as a model organism: a historical account. By Claudio Scazzocchio
In 1953, Guido Pontecorvo (1907-1999) published a 97 pages article in Advances in Genetics called “The Genetics of Aspergillus nidulans” (see CLASSICS). Pontecorvo had become interested in the problem of the divisibility of the gene during his Ph. D. supervised in Edinburgh by Hermann Joseph Muller (1890-1967). It is worth telling how the encounter of these two scientists came about, as it is a paradigmatic illustration of the political storms of the first half of the 20th century. Muller, one of the “kids” of Morgan’s Drosophila lab, was of a left political persuasion, had to leave Berlin when the Nazis came to power,…
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