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An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.
An oncogene is a gene that has the potential to cause cancer. In tumor cells, these genes are often mutated, or expressed at high levels.
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signaling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.
Janet Davison Rowley was an American human geneticist and the first scientist to identify a chromosomal translocation as the cause of leukemia and other cancers, thus proving that cancer is a genetic disease. Rowley spent the majority of her life working in Chicago and received many awards and honors throughout her life, recognizing her achievements and contributions in the area of genetics.
A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neoplasia. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
The breakpoint cluster region protein (BCR) also known as renal carcinoma antigen NY-REN-26 is a protein that in humans is encoded by the BCR gene. BCR is one of the two genes in the BCR-ABL fusion protein, which is associated with the Philadelphia chromosome. Two transcript variants encoding different isoforms have been found for this gene.
ETV6 protein is a transcription factor that in humans is encoded by the ETV6 gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations that lead to an array of potentially lethal cancers, i.e., ETV6 is a clinically significant proto-oncogene in that it can fuse with other genes to drive the development and/or progression of certain cancers. However, ETV6 is also an anti-oncogene or tumor suppressor gene in that mutations in it that encode for a truncated and therefore inactive protein are also associated with certain types of cancers.
Exosome component 2, also known as EXOSC2, is a protein which in humans is encoded by the EXOSC2 gene.
Arul M. Chinnaiyan is a Hicks Endowed Professor of Pathology and professor of pathology and urology at the University of Michigan Medical School. He is also a Howard Hughes medical Investigator (HHMI) at the Howard Hughes Medical Institute.
Dorothea Bennett was a geneticist, known for the genetics of early mammalian development and for research into mammalian sperm surface structures and their role in fertilization and spermatogenesis. She was "one of the major figures in mouse developmental genetics".
Leslie Clarence Dunn was a developmental geneticist at Columbia University. His early work with the mouse T-locus and established ideas of gene interaction, fertility factors, and allelic distribution. Later work with other model organisms continued to contribute to developmental genetics. Dunn was also an activist, helping fellow scientists seek asylum during World War II, and a critic of eugenics movements.
Terence Howard Rabbitts FRS FMedSci is currently Professor of Molecular Immunology at the Institute of Cancer Research, London.
William "Bill" Fleming Hoggan Jarrett, RCVS, FRCPath, FRCPG, FRS (1928–2011) was a British pathologist.
Anne Carla Ferguson-Smith is a mammalian developmental geneticist. She is the Arthur Balfour Professor of Genetics and Pro-Vice Chancellor for Research and International Partnerships at the University of Cambridge. Formerly head of the Department of Genetics at the University of Cambridge, she is a Fellow of Darwin College, Cambridge and serves as President of the Genetics Society.
The Department of Genetics is a department of the University of Cambridge that conducts research and teaching in genetics.
Mixed-phenotype acute leukemia (MPAL) is a group of blood cancers (leukemia) which have combined features of myeloid and lymphoid cancers. It is a rare disease, constituting about 2–5% of all leukemia cases. It mostly involve myeloid with either of T lymphocyte or B lymphocyte progenitors, but in rare cases all the three cell lineages. Knowledge on the cause, clinical features and cellular mechanism is poor, making the treatment and management (prognosis) difficult.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
References
- 1 2 3 4 5 "FERGUSON-SMITH, Prof. Malcolm Andrew" . Who's Who . Vol. 2015 (online Oxford University Press ed.). Oxford: A & C Black.(Subscription or UK public library membership required.)
- ↑ "Malcolm Ferguson-Smith". royalsociety.org.
- ↑ Jones E M; Tansey E M, eds. (2014). Clinical Molecular Genetics in the UK c.1975-c.2000. UK: Queen Mary, University of London. freely available as a PDF download from the History of Modern Biomedicine Research Group.
- ↑ "Codebreakers: Makers of Modern Genetics: the Malcolm Ferguson Smith papers". wellcomelibrary.org. 21 March 2024.
- 1 2 3 4 Tim Powell. "Ferguson-Smith, Malcolm Andrew, b.1931. Geneticist". Bath.ac.uk. Archived from the original on 28 October 2009. Retrieved 26 June 2010.
- ↑ Bartram, Claus R.; de Klein, Annelies; Hagemeijer, Anne; van Agthoven, Ton; van Kessel, Ad Geurts; Bootsma, Dirk; Grosveld, Gerard; Ferguson-Smith, Malcolm A.; Davies, Teresa; Stone, Marion; Heisterkamp, Nora; Stephenson, John R.; Groffen, John (1983). "Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia". Nature . 306 (5940): 277–280. Bibcode:1983Natur.306..277B. doi:10.1038/306277a0. ISSN 0028-0836. PMID 6580527. S2CID 4322151.
- ↑ "BSE inquiry". bseinquiry.gov.uk. Archived from the original on 3 February 2001.
