Margaret Susan Povey

Abstract

Molecular geneticist and early gene mapper. She was born in Leeds, UK, on April 24, 1942, and died of ovarian cancer in Cheddington, UK, on Jan 11, 2019, aged 76 years. Geneticist Professor Sue Povey will be remembered for her work on mapping human genes, notably one of those responsible for tuberous sclerosis (TSC). But she also merits a debt of gratitude for the role she played from 1996 to 2007 as Chair of the Human Genome Organisation's Gene Nomenclature Committee. As genes began to be discovered in increasing numbers, so it became imperative to prevent different workers giving different names to the same gene. Nomenclature in the early days tended to be loosely descriptive. Work on the fruit fly Drosophila, for example, generated descriptors such as White Eye, Red Eye, Dachshund, and Tin Man. “Later on, people realised that the human genes that were being sequenced were homologous to Drosophila genes”, says Dallas Swallow, Emeritus Professor in the Research Department of Genetics, Evolution and Environment at University College London (UCL) in the UK. It fell to Povey's committee, she adds, to ensure that some of the more colourful descriptions were revised. “Sue pointed out that you could hardly tell parents that their child's illness was due to a mutation in the Lunatic Fringe gene.” Tactfully, this was renamed LFNG. Thus, did Povey help to bring a necessary sobriety as well as good order to gene nomenclature. As a student at the University of Cambridge, Povey read genetics before taking her medical degree at UCL. She qualified as a doctor in 1967, studied tropical medicine at Liverpool University, and joined the Save the Children Fund in 1969 to work as a medical officer in Algeria. But her scientific interest in genetics soon won out. On returning to the UK in the following year, she abandoned clinical medicine in favour of a scientific post with the Medical Research Council (MRC) Human Biochemical Genetics Unit at UCL. She was appointed its Deputy Director in 1989 and stayed there until 2000, when she became UCL's Haldane Professor of Human Genetics. Povey retired emeritus in 2007. One of her collaborators over many years was Julian Sampson, Director of the Division of Cancer and Genetics at Cardiff University School of Medicine. On Povey's switch from medicine to science, he comments that “she'd always been very scientifically and analytically minded. She was a scientist at heart.” But Povey's stint as a clinician did help her to see her discoveries in the context of people wanting diagnoses and patients needing treatment. “She maintained close links with patients and patient organisations throughout her working life”, Sampson adds. As Swallow puts it, genetics was not, for her, a purely academic exercise. “All the way through her work she had a keen sense that it ought to be applied to patients.” When Povey first began work at the MRC, gene mapping was still in its relative infancy. Some diseases had already been linked to particular chromosomes; colour blindness to the X chromosome, for example. Family studies of blood groups and the way in which they co-segregated with other traits were another guide to gene locations. The late 1960s saw the advent of new hybrid cell techniques that could be harnessed for gene mapping. The work was laborious and progress was slow, but it laid a framework on which the DNA studies of the Human Genome Project were able to build. Povey's initial interest in TSC was sparked by a meeting with Professor John Osborne, later to found the UK's first TSC clinic at the Royal United Hospital in Bath. In the mid-1980s, Osborne was eager for someone to start working on the genetics of the disorder. Povey took up the challenge and, with another group based in Glasgow, located the gene to chromosome 9. It subsequently emerged that chromosome 16 also carried a gene involved in TSC. Povey, Sampson, and research groups in four other countries then collaborated in the arduous task of identifying which band of chromosome 9 housed the TSC gene. They succeeded, and published their findings in 1997. “Sue was fiercely critical of data quality”, says Sampson. “She had an eagle eye for ensuring there were no mistakes, and that data interpretation was justifiable and rigorous…she could seem a little formidable at times, but beneath it there was a real warmth and caring.” Povey is survived by her brother Phil.