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Dirk Bootsma (23 May 1936 – 5 October 2020) was a Dutch geneticist. He was a professor at the
Erasmus University Rotterdam Erasmus University Rotterdam (abbreviated as ''EUR'', nl, Erasmus Universiteit Rotterdam ) is a public research university located in Rotterdam, Netherlands. The university is named after Desiderius Erasmus Roterodamus, a 15th-century humani ...
between 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. intercalating agents), radiation and other mutagens. Three excision repair pathways exist to repair single stranded DNA damage: Nucle ...
.


Career

Bootsma was born on 23 May 1936. He started his study of biology at
Utrecht University Utrecht University (UU; nl, Universiteit Utrecht, formerly ''Rijksuniversiteit Utrecht'') is a public research university in Utrecht, Netherlands. Established , it is one of the oldest universities in the Netherlands. In 2018, it had an enrollm ...
in September 1953. He did his first DNA-research under professor Winkler. In 1965 he obtained his PhD under Jacob A. Cohen from Leiden University 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 Nederlandse Organisatie voor Toegepast Natuurwetenschappelijk Onderzoek (TNO; en, Netherlands Organisation for Applied Scientific Research) is an independent research organisation in the Netherlands that focuses on applied science. The organisat ...
(TNO). There, he researched the influence of
X-radiation X-rays (or rarely, ''X-radiation'') are a form of high-energy electromagnetic radiation. In many languages, it is referred to as Röntgen radiation, after the German scientist Wilhelm Conrad Röntgen, who discovered it in 1895 and named it '' ...
on chromosomes in living cells. After obtaining his PhD, Bootsma joined the newly founded department of cell biology and genetics at the
Erasmus University Rotterdam Erasmus University Rotterdam (abbreviated as ''EUR'', nl, Erasmus Universiteit Rotterdam ) is a public research university located in Rotterdam, Netherlands. The university is named after Desiderius Erasmus Roterodamus, a 15th-century humani ...
. In 1969, he became a professor of genetics. After
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 fou ...
became available, Bootsma and his department made use of this technology. 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 ...
. Bootsma later lost his interest in gene mapping. He then turned to cancer research, relying on his earlier experiences at TNO. He focused on mechanisms that repaired DNA, especially 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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
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 49 million DNA base pairs and representing ...
, which was recently discovered to be involved 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 research team of Bootsma 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 a specific genetic abnormality in Chromosome 22 (human), chromosome 22 of Leukemia, leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defe ...
. 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 identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA da ...
. 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 chromosomal abnormality. Although polygenic disorde ...
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 s ...
(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 gene ...
. When
ERCC3 XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex. Structure The 3D-structure of the archaeal homolog of XPB has been solved by X-ray crystallography by Dr. Joh ...
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 biological cell that synthesizes the extracellular matrix and collagen, produces the structural framework ( stroma) for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of ...
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. intercalating agents), radiation and other mutagens. Three excision repair pathways exist to repair single stranded DNA damage: Nucle ...
. Bootsma retired in October 2002, he was succeeded as group research leader by
Jan Hoeijmakers Jan Hendrik Jozef Hoeijmakers (born 15 March in 1951 in Sevenum) is a Dutch molecular biologist, biochemist, and molecular geneticist. Education and career Hoeijmakers studied biology from 1969 at Radboud University Nijmegen with a master's deg ...
. 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 1,800 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 ( nl, Koninklijke Nederlandse Akademie van Wetenschappen, abbreviated: KNAW) is an organization dedicated to the advancement of science and literature in the Netherlands. The academy is housed ...
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 Europea ...
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 ''Fondation Louis-Jeantet'' and awarded each year to experienced researchers who have distinguished themselves in the field of biomedical research in one of the member states of t ...
. In 1996 Bootsma held the Rogier Soher Lecture of the
International Agency for Research on Cancer The International Agency for Research on Cancer (IARC; french: Centre International de Recherche sur le Cancer, CIRC) is an intergovernmental agency forming part of the World Health Organization of the United Nations. Its role is to conduct and ...
. In 2000 he won the Mauro Baschirotto Award of the
European Society of Human Genetics The European Society of Human Genetics (ESHG) is a non-profit organization that promotes research, facilitates communication and encourages best practice in applications of human and medical genetics, particularly in Europe. The society organizes t ...
. 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