William Rees Brebner Robertson

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William Rees Brebner Robertson (31 May 1881 - 15 March 1941) was an American zoologist and early cytogeneticist who discovered the chromosomal rearrangement named in his honour, Robertsonian translocation, the most common structural chromosomal abnormalities seen in humans that result in syndromes of multiple malformations, including trisomy 13 Patau syndrome and trisomy 21 Down syndrome. [1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12]

Born in Manchester, Kansas, he was raised on a farm in Dickinson County in a small family of Scottish ancestry. Fluent in Scottish Gaelic, French and German, as a young boy he developed a keen and enduring interest in grasshoppers that proliferated in his father's fields; seven species of which formed the basis of his 1916 paper in which he described what is known as a Robertsonian translocation (ROB). [2] [3] [4] [12]

Graduating Abilene High School he attended the University of Kansas (A.B., 1906; A.M., 1907), one of Clarence Erwin McClung's eager students of cytology. An Austin Teaching Fellow of Zoology at Harvard University (Ph.D., 1915), he obtained his doctorate in the laboratory of Edward Laurens Mark. [3]

Dr. Robertson was a research scientist of the golden era of classical genetics, a period when the tools were breeding experiments and microscopes. Returning to the University of Kansas as Professor in the Department of Zoology, then moving to the University of Missouri; during the period of 1917-27 Dr. Robertson devoted himself to the extensive breeding of 4,800 turkeys and derived a valuable set of exquisite data, including many skin and feather samples. [3] [1]

Moving to Iowa in 1930, while Dr. Robertson never published on the turkey materials and data, he left them in such order that they were subsequently published in 1943 by his doctoral students. Held in great esteem by the students he inspired with measured and painstaking research practices, he was deceased before the preparation of their manuscript, while Professor in the Anatomy Department of the Medical School of the University of Iowa. Valuable contributions to the understanding of inheritance in these birds were proven in his data. [3] [1]

The final years of his life in Iowa were devoted to teaching, graduate students and further cytogenetics research dealing with the chromosomal relations in pigmy locusts and some larger grasshoppers. He also contributed a chapter on human heredity, "The Biological and Eugenical Background of The Family" to Jung's "Modern Marriage." [3] [13]

Dr. Robertson is buried alongside his parents at the Keystone Cemetery in Dickinson County, Kansas; his scientific legacy born of childhood curiosity on its plains. [1] [14]

[2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [15]

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Autosome Any chromosome other than a sex chromosome

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.

Chromosome DNA molecule containing genetic material of a cell

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. Most eukaryotic chromosomes include packaging proteins called histones which, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation.

Karyotype Photographic display of total chromosome complement in a cell

A karyotype is a preparation of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, sorted by length, centromere location and other features and for a test that detects this complement or counts the number of chromosomes. Karyotyping is the process by which a karyotype is prepared from photographs of chromosomes, in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities.

Deletion (genetics) Mutation that removes a part of a DNA sequence

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur which result in the deletion of a part of chromosome. The breaks can be induced by heat, viruses, radiations, chemicals. When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency.

Aneuploidy Presence of an abnormal number of chromosomes in a cell

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell.

Cytogenetics Branch of genetics

Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology, that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH).

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

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Nondisjunction Failure to separate properly during cell division

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (mitosis/meiosis). There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy).

Chromosomal translocation Phenomenon that results in unusual rearrangement of chromosomes

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.

Robertsonian translocation (ROB) is a chromosomal abnormality wherein a certain type of a chromosome becomes attached to another. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause health difficulties, but can in some cases result in genetic disorders such as Down syndrome and Patau syndrome. Robertsonian translocations result in a reduction in the number of chromosomes.

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Chromosome 21 Human chromosome

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The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the genetic material they carry, can cause various genetic disorders and neoplasms. The sSMC in PKS consists of multiple copies of the short arm of chromosome 12. Consequently, the multiple copies of the genetic material in the sSMC plus the two copies of this genetic material in the two normal chromosome 12's are overexpressed and thereby cause the syndrome. Due to a form of genetic mosaicism, however, individuals with PKS differ in the tissue distributions of their sSMC and therefore show different syndrome-related birth defects and disease severities. For example, individuals with the sSMC in their heart tissue are likely to have cardiac structural abnormalities while those without this sSMC localization have a structurally normal heart.

A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome segments, each with a centromere, resulting in the loss of acentric fragments and the formation of dicentric fragments. The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation and paracentric inversion. Dicentric chromosomes have important roles in the mitotic stability of chromosomes and the formation of pseudodicentric chromosomes. Their existence has been linked to certain natural phenomena such as irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome. The formation of dicentric chromosomes and their implications on centromere function are studied in certain clinical cytogenetics laboratories.

A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

HOXA13 Protein-coding gene in the species Homo sapiens

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Patricia Ann Jacobs OBE FRSE FRS FMedSci FRCPath is a Scottish geneticist and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory, within the University of Southampton.

Trisomy X Chromosome disorder in women

Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 women but it is rarely diagnosed; fewer than 10% of those with the condition know they have it.

References

  1. 1 2 3 4 Robertson, W. R. B.; Bohren, B. B.; Warren, D. C. (1943). "The Inheritance of Plumage in the Turkey". Journal of Heredity. 34 (8): 246–256. doi:10.1093/oxfordjournals.jhered.a105298.
  2. 1 2 3 Robertson, W.R.B. (1916). "Chromosome studies. I. Taxonomic relationships shown in the chromosomes of Tettigidae and Acrididae. V-shaped chromosomes and their significance in Acrididae, Locustidae and Gryllidae: chromosome and variation". Journal of Morphology. 27 (2): 179–331. doi:10.1002/jmor.1050270202. S2CID   86497936.
  3. 1 2 3 4 5 6 7 Nabors, R.K. (January 30, 1942). "Obituary: William Rees Brebner Robertson (1881-1941)". Science. 95 (2457): 113–114. doi:10.1126/science.95.2457.113. PMID   17795644.
  4. 1 2 3 Hartwell, Leland (2011). Genetics From Genes to Genomes, 4e (4 ed.). New York: McGraw-Hill. pp. 443, 454. ISBN   9780073525266.
  5. 1 2 Therman, E (February 1989). "The nonrandom participation of human afrocentric chromosomes in Robertsonian translocations". Annals of Human Genetics. 53 (53(Pt1)): 49–65. doi:10.1111/j.1469-1809.1989.tb01121.x. PMID   2658738. S2CID   1949436.
  6. 1 2 Zhao, WW (May 1, 2015). "Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China". PLOS ONE. 10 (5): e0122647. Bibcode:2015PLoSO..1022647Z. doi: 10.1371/journal.pone.0122647 . PMC   4416705 . PMID   25932913.
  7. 1 2 Dolskiy, Alexander A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Kolesnikova, Irina S.; Yudkin, Dmitry V. (2018). "Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability". Egyptian Journal of Medical Human Genetics. 19 (2): 141–145. doi: 10.1016/j.ejmhg.2017.11.002 .
  8. 1 2 Engels, Hartmut; Eggermann, Thomas; Caliebe, Almut; Jelska, Anna; Schubert, Regine; Schüler, Herdit M.; Panasiuk, Barbara; Zaremba, Jacek; Latos-BieleńSka, Anna; Jakubowski, Lucjusz; Zerres, Klaus P.; Schwanitz, Gesa; Midro, Alina T. (2008). "Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees**". American Journal of Medical Genetics Part A. 146A (20): 2611–2616. doi:10.1002/ajmg.a.32500. PMID   18798317. S2CID   42829871.
  9. 1 2 RACHISAN AL; NICULAE AS; TINTEA I; POP B; MILITARU M; BIZO A; HRUSCA A (2017). "Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child". Clujul Medical. 90 (4): 445–448. doi:10.15386/cjmed-763. PMC   5683837 . PMID   29151796.
  10. 1 2 Buoni, S.; Zannolli, R.; MacUcci, F.; Pucci, L.; Mogni, M.; Pierluigi, M.; Fois, A. (2006). "Familial robertsonian 13;14 translocation with mental retardation and epilepsy". Journal of Child Neurology. 21 (6): 531–3. doi:10.1177/08830738060210060701. PMID   16948942. S2CID   44812342.
  11. 1 2 Venkateshwari, A.; Srilekha, A.; Sunitha, T.; Pratibha, N.; Jyothy, A. (2010). "Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report". Journal of Reproduction & Infertility. 11 (3): 197–200. PMC   3719299 . PMID   23926490.
  12. 1 2 3 R.J.M Gardner, Grant R Sutherland, and Lisa G. Shaffer (Nov 2011). Chromosome Abnormalities and Genetic Counseling (4 ed.) (4 ed.). Oxford University Press. pp. 140–154. ISBN   978-0-19-537533-6.{{cite book}}: CS1 maint: multiple names: authors list (link)
  13. 1 2 Jung, Moses (1940). "Modern Marriage". American Journal of Sociology. New York: F.S. Crofts & Company. 47 (2): 183–230. doi:10.1086/218887.
  14. ↑ Bidau, Claudio J.; Martí, Dardo A. (2010). "110 Years of Orthopteran Cytogenetics, the Chromosomal Evolutionary Viewpoint, and Michael White's Signal Contributions to the Field". Journal of Orthoptera Research. 19 (2): 165–182. doi:10.1665/034.019.0202. hdl: 11336/59292 . S2CID   84319868.
  15. ↑ "William Rees Brebner Robertson". Find a Grave .
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