Changing chromosome numbers
by Jean K. Lightner
Many people regard chromosome numbers in animals as being essentially fixed. While
it is true that chromosome numbers are generally fairly stable within a population
of animals, they are by no means completely static.
A karyotype from an individual with Down’s syndrome that resulted from a Robertsonian
translocation. One copy of chromosome 21 is attached to one of chromosome 14 (the
translocated chromosome) and two additional copies of chromosome 21 are present.
About 5% of Down’s syndrome cases are the result of this type of translocation.
The most common and best known chromosomal rearrangement affecting chromosome number
is the Robertsonian translocation (ROB). It is named after the American geneticist
W.R.B. Robertson, who first described this chromosomal rearrangement in grasshoppers
in 1916. It occurs when the long arms of two acrocentric chromosomes (chromosomes
with the centromere very near one end) fuse to form one metacentric chromosome (a
chromosome with the centromere near the middle). The short arms of the original
chromosomes are generally lost with no obvious adverse consequences.1
ROBs can be associated with problems. In humans, approximately one in 1,000 babies
is born with this form of translocation.2
Most appear normal, though they may experience fertility problems later in life.
Fertility problems can arise when gametes (egg or sperm) are formed that are missing
or have extra chromosomes. Gametes from ROB carriers may be normal, with one of
each chromosome or balanced, with the translocated chromosome but neither of the
acrocentric homologues. However, on occasion unbalanced gametes may be formed that
are either missing a chromosome or have the translocated chromosome with one of
its acrocentric homologues. Unbalanced gametes can give rise to embryos which fail
to develop or develop with abnormalities such as Down’s syndrome. It is estimated
that 5% of Down’s syndrome cases are the result of an ROB.
While it is true that chromosome numbers are generally fairly stable within a population
of animals, they are by no means completely static.
Although ROBs can be associated with problems, there are times where no adverse
outcomes are observed. For example, they have been observed in Saanan goats with
a normal phenotype and no reported fertility problems.3 There are crossbreeding studies with sheep carrying
up to three different translocations that showed no significant effect on phenotype
or fertility for any of the combinations.4
In fact, the normal chromosome number of domestic sheep (Ovis aries, 2n
= 54) is inferred to be the result of three different translocations relative to
domestic goats (Capra hircus, 2n = 60). The variation in chromosome number
in the Bovidae family (including the tsoan5
and cattle6 monobaramins)
appears to be mostly due to ROBs.
There are other types of chromosomal rearrangements that have contributed to the
range of chromosome numbers in animals that are monobaraminic (known to be from
the same created kind). Some of these rearrangements are quite unexpected. For example,
the Indian muntjac (Muntiacus muntjak, 2n = 6 in females, 7 in males) has
the x-chromosome fused with one of its autosomes. The y-chromosome is separate.
The male will have one of this autosomal pair fused to an x, and the other without
a fused sex chromosome and a separate y, giving it an extra chromosome compared
to the female. It is interesting to note that viable hybrids have been formed between
this species and Reeve’s muntjac (Muntiacus reevesi, 2n = 46).7 Some species of antelope have
a fused y-chromosome.8
ROBs have been shown to be non-random and appear to have distinct mechanisms governing
their formation.9 They occur
frequently enough without serious consequence to suggest that they serve some useful
purpose. Much is unknown; particularly what factors influence their occurrence and
what important results they may have. They are believed to have played a role in
speciation within the family Bovidae. As further research reveals more information,
it is likely we will find still another designed mechanism within the genome that
points to an all-wise Creator.
Further reading
Recommended Resources
References
- Definition of Robertsonian translocation, <www.medterms.com/script/main/art.asp?articlekey=5388>,
26 July 2006. Return to text.
- Robertsonian translocation resource page, <www.spokane.wsu.edu/research&service/HREC/medical_
sciences/RobertsonianTranslocationResource.asp>,
25 July 2006. Return to text.
- Mota, L. and Silva, R., Centric fusion in goats (Capra
hircus): identification of a 6/15 translocation by high resolution chromosome
banding, Genet. Mol. Biol. 21(1):71–76, 1998; <www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100012>,
26 July 2006. Return to text.
- Bruere, A.N. and Ellis, P.M., Cytogenetics and reproduction
of sheep with multiple centric fusions (Robertsonian translocations), J. Reprod.
Fertil. 57(2):363–375, 1979. Return to
text.
- Lightner, J.K., Identification of species within the sheep-goat
kind (Tsoan monobaramin), Journal of Creation 20(3):61–65,
2006. Return to text.
- Lightner, J.K., Identification of species within the cattle
monobaramin (kind), Journal of Creation 21(1):119–122, 2007.
Return to text.
- Although the offspring are viable, the males at least are
infertile. Fontana, F. and Rubini, M., Chromosomal evolution in Cervidae, Biosystems
24(2):157–174, 1990. Return to text.
- For example, the bongo (Tragelaphus euryceros, 2n = 33 in
males, 34 in females). This species has been crossed with the sitatunga (T. spekei,
2n = 30) to form a fertile offspring. Koulischer, L., Tijskens, J. and Mortelmans,
J., Chromosome studies of a fertile mammalian hybrid: the offspring of
the cross bongo x sitatunga (Bovoidea), Chromosoma 41(3):265–270,
1973. Return to text.
- For example, in humans there are five acrocentrics chromosomes
(13, 14, 15, 21, and 22). While any of these can be involved in a ROB, all combinations
are rare except translocations between 13 and 14, and between 14 and 21. Bandyopadhyay,
R., Heller, A., Knox-DuBois, C., McCaskill, C., Berend, S.A., Page, S.L. and Shaffer,
L.G., Parental origin and timing of de novo Robertsonian translocation formation,
Am. J. Hum. Gen. 71(6):1456–1462, 2002.
Return to text.
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