Dirk Bootsma
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Dirk Bootsma (23 May 1936 – 5 October 2020) was a Dutch geneticist. He was a professor at
Erasmus University Rotterdam Erasmus University Rotterdam ( ; abbreviated as EUR) is a public research university located in Rotterdam, Netherlands. The university is named after Desiderius Erasmus Roterodamus, a 15th-century Christian humanist and theologian. Erasmus M ...
from 1969 and 2002. He and his research group discovered the cause of
chronic myelogenous leukemia Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white blood cells. It is a form of leukemia characterized by the increased and unregulated growth of myeloid cells in the bone marrow and the accumula ...
and furthered the understanding of the
nucleotide excision repair Nucleotide excision repair is a DNA repair mechanism. DNA damage occurs constantly because of chemicals (e.g. Intercalation (biochemistry), intercalating agents), radiation and other mutagens. Three excision repair pathways exist to repair single ...
.


Career

Bootsma was born on 23 May 1936. He began studying biology at
Utrecht University Utrecht University (UU; , formerly ''Rijksuniversiteit Utrecht'') is a public university, public research university in Utrecht, Netherlands. Established , it is one of the oldest universities in the Netherlands. In 2023, it had an enrollment of ...
in September 1953. He conducted his first DNA research under Professor Winkler. In 1965, he earned his PhD under Jacob A. Cohen from
Leiden University Leiden University (abbreviated as ''LEI''; ) is a Public university, public research university in Leiden, Netherlands. Established in 1575 by William the Silent, William, Prince of Orange as a Protestantism, Protestant institution, it holds the d ...
with a thesis titled: "De invloed van röntgenstraling op de delingscyclus van in vitro gekweekte cellen". In the late 1960s, Bootsma performed his compulsory military service at the Medical-Biological Laboratory of the
Netherlands Organisation for Applied Scientific Research The Netherlands Organisation for Applied Scientific Research (, abbreviated TNO, literally "Dutch Organisation for Applied Scientific Research") is an independent statutory research organisation in the Netherlands that focuses on applied science ...
(TNO) where he researched the influence of X-radiation on chromosomes in living cells. After completing his PhD, Bootsma joined the newly founded Department of Cell Biology and Genetics at
Erasmus University Rotterdam Erasmus University Rotterdam ( ; abbreviated as EUR) is a public research university located in Rotterdam, Netherlands. The university is named after Desiderius Erasmus Roterodamus, a 15th-century Christian humanist and theologian. Erasmus M ...
. In 1969, he became a professor of genetics. With the advent of
recombinant DNA Recombinant DNA (rDNA) molecules are DNA molecules formed by laboratory methods of genetic recombination (such as molecular cloning) that bring together genetic material from multiple sources, creating sequences that would not otherwise be fo ...
, Bootsma and his department utilised this innovation. In 1974, he organized the second Human Gene Mapping Conference in
Noordwijkerhout Noordwijkerhout () is a town and former municipality in the western part of the Netherlands, in the province of South Holland. The town is currently part of the municipality of Noordwijk and lies in the bulb-growing region (the Duin- en Bollenstree ...
. Later, Bootsma shifted his focus from gene mapping to cancer research, building on his earlier experiences at TNO. He invested mechanisms of DNA repair, particularly in rare forms of skin cancer, and discovered several
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
s in this field. Bootsma had a special interest in
chromosome 22 Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing b ...
, which was recently implicated in
chronic myelogenous leukemia Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white blood cells. It is a form of leukemia characterized by the increased and unregulated growth of myeloid cells in the bone marrow and the accumula ...
. In 1982, the Bootsma's research team discovered the cause of this specific type of blood cancer: two broken chromosomes ( 9 and 22) which were attached mistakenly reattached to the other, leading to the
Philadelphia chromosome The Philadelphia chromosome or Philadelphia translocation (Ph) is an abnormal version of chromosome 22 where a part of the ''ABL (gene), Abelson murine leukemia'' 1 (''ABL1'') gene on chromosome 9 breaks off and attaches to the ''BCR (gene), break ...
. Another topic on which Bootsma furthered research from his time at TNO was
DNA repair DNA repair is a collection of processes by which a cell (biology), cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is cons ...
. He set up research into
genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...
s, especially
xeroderma pigmentosum Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in su ...
(XP). For this research, Bootsma used human cells, being one of the first in the Netherlands to do so. With the developing of technology, especially the possibility to insert foreign DNA into humans and the discovery of recombinant DNA, Bootsma was able to further his study of XP. In 1984, his group was able to clone the repair gene
ERCC1 DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ''ERCC1'' gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination. Many aspects of these two gen ...
. When ERCC3 was also cloned, this led to a solution for DNA repair in XP-patients by inserting them in their
fibroblast A fibroblast is a type of cell (biology), biological cell typically with a spindle shape that synthesizes the extracellular matrix and collagen, produces the structural framework (Stroma (tissue), stroma) for animal Tissue (biology), tissues, and ...
s, leading to an overall furthered understanding of the
nucleotide excision repair Nucleotide excision repair is a DNA repair mechanism. DNA damage occurs constantly because of chemicals (e.g. Intercalation (biochemistry), intercalating agents), radiation and other mutagens. Three excision repair pathways exist to repair single ...
. Bootsma retired in October 2002 and was succeeded as group research leader by Jan Hoeijmakers. Bootsma died on 5 October 2020, aged 84.


Honours and distinctions

Bootsma was elected a member of the
European Molecular Biology Organization The European Molecular Biology Organization (EMBO) is a professional, non-profit organization of more than 2,100 life scientists. Its goal is to promote research in life science and enable international exchange between scientists. It co-funds cour ...
in 1976. He was elected a member of the
Royal Netherlands Academy of Arts and Sciences The Royal Netherlands Academy of Arts and Sciences (, KNAW) is an organization dedicated to the advancement of science and literature in the Netherlands. The academy is housed in the Trippenhuis in Amsterdam. In addition to various advisory a ...
in 1983. Bootsma was elected a member of the
Academia Europaea The Academia Europaea is a pan-European Academy of humanities, letters, law, and sciences. The Academia was founded in 1988 as a functioning Europe-wide Academy that encompasses all fields of scholarly inquiry. It acts as co-ordinator of Europe ...
in 1991. Bootsma and Jan Hoeijmakers won the 1995
Louis-Jeantet Prize for Medicine Established in 1986, the Louis-Jeantet Prizes are funded by the Louis-Jeantet Foundation, ''Fondation Louis-Jeantet'' and awarded each year to experienced researchers who have distinguished themselves in the field of biomedical research in one ...
. In 1996, Bootsma held the Rogier Soher Lecture of the
International Agency for Research on Cancer The International Agency for Research on Cancer (IARC; ) is an intergovernmental agency forming part of the World Health Organization of the United Nations. Its role is to conduct and coordinate research into the causes of cancer. It also cance ...
. In 2000, he won the Mauro Baschirotto Award of the European Society of Human Genetics. In 2009, Bootsma's discovery of the relation between chronic myelogenous leukemia and the Philadelphia chromosome was incorporated in the Dutch canon of medicine.


References

{{DEFAULTSORT:Bootsma, Dirk 1936 births 2020 deaths Dutch geneticists Academic staff of Erasmus University Rotterdam Leiden University alumni Members of Academia Europaea Members of the European Molecular Biology Organization Members of the Royal Netherlands Academy of Arts and Sciences Utrecht University alumni