Robertsonian translocation

Source: Wikipedia, the free encyclopedia.
A Robertsonian translocation. The short arms of the chromosomes (shown on right) are often lost

Robertsonian translocation (ROB) is a

great apes, is the reason humans have 46 chromosomes while all other primates have 48. Detailed DNA studies of chimpanzee, orangutan, gorilla and bonobo apes has determined that where human chromosome 2 is present in our DNA in all four great apes this is split into two separate chromosomes typically numbered 2a and 2b.[3][4] Similarly, the fact that horses have 64 chromosomes and donkeys 62, and that they can still have common, albeit usually infertile, offspring,[5] may be due to a Robertsonian evolutionary fusion at some point in the descent of today's donkeys from their common ancestor.[6]

Mechanism

Long arm (q arm)
D: Sister chromatids

All chromosomes in animals have a long arm (known as q) and a short arm (known as p), separated by a region called the

22. When these chromosomes break at their centromeres, the two resulting long arms may fuse. The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation.[citation needed
]

This type of translocation may involve

cytologically visible, and can reduce chromosome number (in humans, from 23 to 22). However, the smaller chromosome carries so few essential genes that its loss is usually clinically insignificant.[7][8]

Consequences

In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the

heterozygous carrier is phenotypically normal because there are two copies of all major chromosome arms and hence two copies of all essential genes.[9] However, the progeny of this carrier may inherit an unbalanced trisomy 21, causing Down syndrome.[10]

A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties. In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15.[2]

A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost—and the person is completely normal in spite of the translocation. Common Robertsonian translocations are confined to the acrocentric chromosomes 13, 14, 15, 21 and 22, because the short arms of these chromosomes encode for

rRNA which is present in multiple copies.[11]

Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal. Their children, however, may either be normal, carry the fusion chromosome (depending which chromosome is represented in the gamete), or they may inherit a missing or extra long arm of an acrocentric chromosome (phenotype affected). Genetic counseling and genetic testing is offered to families that may be carriers of chromosomal translocations.[12]

Rarely, the same translocation may be present homozygously if heterozygous parents with the same Robertsonian translocation have children. The result may be viable offspring with 44 chromosomes.[13] Outside of humans, Przewalski's horse has 66 chromosomes, while both of domesticated horses and the tarpan have 64 chromosomes and donkeys have 62; it is thought that the difference is due to a Robertsonian translocation.[6]

Nomenclature

autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left).
Further information: Karyotype

The

human chromosome nomenclature, which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include rob for Robertsonian translocations.[14] For example, rob(21;21)(q10;q10) causes Down syndrome.[15]

Name

Robertsonian translocations are named after the American

cytogeneticist William Rees Brebner Robertson (1881–1941) who first described a Robertsonian translocation in grasshoppers in 1916.[7] They are also called whole-arm translocations or centric-fusion translocations.[16][17]

References

  1. ^ E. Therman, B. Susman and C. Denniston. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53:49-65.
  2. ^ a b "Unique: Rare Chromosome Disorder Support Group" (PDF). Archived from the original (PDF) on 2019-02-18. Retrieved 2019-02-17.
  3. PMID 28333343
    .
  4. PMID 25984837
    .
  5. ^ More details under Mule and Hinny.
  6. ^
    ISBN 978-1-118-52212-7
    .
  7. ^ a b Robertson WRB. 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. J Morph 1916;27:179-331.
  8. ISBN 978-0-07-352526-6
    .
  9. ^ Peter J. Russel; Essential Genetics 2003
  10. PMID 29218069
    .
  11. S2CID 251647679
    .
  12. S2CID 19308113
    .
  13. PMID 6510025
    .
  14. ^ "ISCN Symbols and Abbreviated Terms". Coriell Institute for Medical Research. Retrieved 2022-10-27.
  15. S2CID 55971437
    .
  16. PMID 26835328
    .
  17. S2CID 11712171
    .
Retrieved from "https://en.wikipedia.org/w/index.php?title=Robertsonian_translocation&oldid=1218433339"