Comparative cytogenetics and chromosomal rearrangements
by Jean K. Lightner
Figure 1. Chromosomal rearrangements involve the repair of double
stranded breaks. They may be followed by changes in heterochromatin or centromeres,
which suggest designed mechanisms are involved in the modifications. A better understanding
of chromosomal rearrangements is necessary to developing both a more robust creation
model and better reasoned apologetic arguments.
Photograph by Gualtiero Boffi from <www.bigstockphoto.com>
Creationists accept that creatures can change over time, but a clearer understanding
of the types of changes involved is necessary for a robust creation model. In creation
apologetic arguments, many genetic changes are assumed to be “accidents”
and the degenerative nature of these changes are commonly pointed out. Biblically,
degenerative changes are expected because of the Curse imposed on Creation after
Adam and Eve sinned.1 However,
there is no biblical reason why all genetic changes must be “accidents”
or even degenerative. After all, God is also portrayed in Scripture as a provider,
so adaptive genetic changes are perfectly reasonable within the creation model.2
Related to this issue is a critical need for a reasonable estimate of genetic similarity
between various kinds at Creation. For example, evolutionists often point to human-chimp
similarities to support their model’s assumption of common ancestry. Creationists
commonly respond that similarity can be from a common designer and then list genetic
differences between humans and chimps. Which of these differences are because God
created humans and chimps differently and which are from changes that have been
acquired since then? If we point to differences that can reasonably be attributed
to changes since Creation, our arguments will be weak and misleading. A proper use
of evidential arguments depends on a robust creation model which requires a more
detailed understanding of genetic changes that have occurred during history.
Chromosomal rearrangements
Towards a better understanding of the types of genomic changes that have occurred
throughout history in the creation model
Comparative cytogentics has been important in establishing that many mammals have
undergone significant chromosomal rearrangements during their history. A diversity
of karyotypes may occur within a genus3-5 or even a species.6-8
Given the considerable karyotypic diversity within some animal baramins (kinds),
many of which were represented by only two animals on the Ark at the Flood, accounting
for relatively rapid karyotype changes is a necessary part of the creation model.9 All rearrangements involve
the repair of double stranded breaks. Additionally, many rearrangements are associated
with alteration of heterochromatin, silencing of a centromere, and/or the formation
of a new centromere.10
Because of the precision necessary to accomplish such changes while maintaining
viability of the animal, it appears there are designed mechanisms in place to accomplish
such rearrangements.
Creating comparative genome maps
Comparative genome maps based on chromosome painting are useful and have been performed
using more than eighty eutherian species. Yet chromosome painting has some significant
limitations when comparing divergent species. There can be reduced hybridization
efficiency of the probes from increased sequence divergence between these species
(e.g. eutherians and marsupials). Comparative genome sequence analysis based on
direct genome alignments has been used to overcome this problem. However, when evolutionists
attempt to construct maps of a putative eutherian ancestor, the results are quite
different between the two methods.
A new in silico method of comparison, called electronic chromosome painting
(E-painting), has been developed to overcome limitations of the previously mentioned
techniques and reduce the complexity of whole genome sequence alignments. First,
orthologous (corresponding) genes are identified using various means such as reciprocal
BLAST best-hit searches.11
Comparative mapping of these orthologous genes allows for identification of regions
with conserved gene order (syntenic segments). These can be used to infer details
about past chromosomal rearrangements. E-painting makes comparisons easier because
it ignores intergenic regions. This also means the method cannot be applied to telomeric,
centromeric, or non-genic portions of the genome.
A recent study using E-painting has revealed some interesting results.12 The genomes of six different mammalian species
(human, mouse, rat, dog, cow, opossum) and the chicken were compared. The mammalian
genomes have been sequenced with a 7-fold or greater coverage. The chicken genome
was included because previous studies had shown it remarkably similar to eutherians
in genome organization. Altogether 526 evolutionary breakpoints (EBs) were identified
and mapped with a resolution around 120 kb. There was a positive correlation between
EB frequency and gene density. Unlike some previous studies, these EBs did not significantly
correspond to well known breakpoints in cancer and other disease related rearrangements.
Primate-specific rearrangements occurred preferentially in regions containing segmental
duplications and copy number variants. The authors concluded that EBs were not random
and show evidence of reuse. Their reconstruction of a putative ancestral eutherian
genome based on this technique showed remarkable similarity to previous ones based
on comparative chromosome painting.
Usefulness of comparisons across baramins
At this point some readers may be questioning the relevance of the above study.
After all, the results are interpreted within an evolutionary framework where all
life is considered to be related. Further, these results may make some people feel
uncomfortable. If rearrangements do occur, and evolutionists can show how a chimp
genome can be rearranged to fit the order found in a human, doesn’t that lend
credence to evolution?
Identification of patterns of intrabaraminic chromosomal diversity should help clarify
what types of rearrangements are consistent with the creation model.
First, chromosomal rearrangements themselves do not change one type of animal into
another. Carriers of balanced chromosomal rearrangements generally have a normal
phenotype, although they may have reduced fertility.13 Additionally, intergenic regions, genes without
orthologs, and the specific sequence of orthologous genes are not considered in
these comparisons. One cannot turn a mouse into a man by simply aligning its genes
in the same order as ours. Second, genomic comparisons, whether within or between
baramins, can provide useful information on genomic structure. This information
is essential for further building the creation model.
The identification of syntenic segments shows that genes commonly appear in a specific
order. If there is an advantage to a specific order of genes, then chromosomal rearrangements
may provide a mechanism for new gene associations that are advantageous in a different
environment. Intrabaraminic E-painting investigations would be useful in investigating
this idea further. It would also be interesting to note any overlap between EBs
and breakpoints required by the creation model.
This study should also force creationists to address the issue of genome organization
similarity between baramins at creation. Decades ago it was thought that karyotypes
were fixed, at least at the species level. Historically, many creationists have
assumed that God created different kinds with different karyotypes. In light of
what is now known about rearrangements, this assumption needs to be reassessed.
Understanding interbaraminic similarity at Creation will add robustness to the creation
model and aid in interpreting interbaraminic investigations that exist in the literature.
Baranomes, VIGEs and chromosomal rearrangements
Peter Borger has suggested that God created baranomes, pluripotent uncommitted genomes,
within created kinds.14
These genomes were designed to adapt rapidly, facilitated by the presence of variation
inducing genetic elements (VIGEs). VIGEs include repetitive sequences and various
mobile elements.15 Interestingly,
another recent study identified a significant enrichment of certain endogenous retrovirus
(ERV) and long interspersed nucleotide (LINE1) elements in EBs in humans and marsupials.16 Studies of phylogenetic
trajectory of orthologous chromosomes have shown many EBs are coincident with ancient
centromere activity or the appearance of new centromeres.16 Thus the
identified ERVs and LINE1s may be acting as VIGEs which play an important role in
chromosomal rearrangements.
Conclusion
Creationists need a more complete understanding of the types of genomic changes
that have occurred throughout history. This includes a more detailed understanding
of chromosomal rearrangements. Identification of patterns of intrabaraminic chromosomal
diversity should help clarify what types of rearrangements are consistent with the
creation model. It may also help uncover underlying mechanisms for rearrangements
and allow for reasonable inferences about the designed purpose of such rearrangements.
This improved understanding of genomic structure and function may inform conjecture
about interbaraminic similarities at Creation and aid in interpreting interbaraminic
comparison that appear in secular literature. E-painting is a recently developed
tool that can aid creation research in this area as genomic data continues to accumulate.
Related articles
Further reading
References
- Genesis 3. Return to text.
- Lightner, J.K., Gene duplications and nonrandom mutations
in the Family Cercopithecidae: evidence for designed mechanisms driving adaptive
genomic mutations, CRSQ 46(1):1–5, 2009.
Return to text.
- Graphodatsky, A.S., Sablina, O.V., Meyer, M.N. et
al., Comparative cytogenetics of hamsters of the genus Calomyscus, Cytogenet
Cell Genet 88(3–4):296–304, 2000.
Return to text.
- Houck, M.L., Kingswood, S.C. and Kumamoto, A.T., Comparative
cytogenetics of tapirs, genus Tapirus (Perissodactyla, tapiridae), Cytogenet
Cell Genet 89(1–2):110–115, 2000.
Return to text.
- Yang, F., Fu, B., O’Brien, P.C., Robinson, T.J., Ryder,
O.A. and Ferguson-Smith, M.A., Karyotypic relationships of horses and zebras:
results of cross-species chromosome painting, Cytogenet Genome Res
102(1–4):235–243, 2003. Return to text.
- Nachman, M.W. and Myers, P., Exceptional chromosomal mutations
in a rodent population are not strongly underdominant, PNAS 86(17):6666–6670,
1989. Return to text.
- Kumamoto, A.T., Charter, S.J., Kingswood, S.C., Ryder, O.A.
and Gallagher, D.S., Jr., Centric fusion differences among Oryx dammah,
O. gazella, and O. leucoryx (Artiodactyla, Bovidae), Cytogenet
Cell Genet 86(1):74–80, 1999. Return
to text.
- Lightner, J.K., Changing
chromosome numbers, Journal of Creation 20(3):14–15,
2006; <creation.com/changing-chromosome-numbers>. Return to
text.
- Lightner, J.K.,
Karyotypic and allelic diversity within the canid baramin (Canidae), Journal
of Creation 23(1):94–98, 2009. Return
to text.
- Lightner, J.K., Karyotype variability within the cattle monobaramin,
ARJ 1:77–88, 2008. Return to text.
- Kohn, M., Högel, J., Vogel, W., Minich, P., Kehrer-Sawatzki,
H, Graves J.A. and Hameister, H., Reconstruction of a 450-My-old ancestral vertebrate
protokaryotype, Trends Genet 22(4):203–210, 2006.
Return to text.
- Kemkemer, C., Kohn, M., Cooper, D.N., Froenicke, L., Högel,
J., Hameister, H. and Kehrer-Sawatzki, H., Gene synteny comparisons between different
vertebrates provide new insights into breakage and fusion events during mammalian
karyotype evolution, BMC Evol Biol 9:84, 2009.
Return to text.
- The reduced fertility is believed to be largely due to the
formation of unbalanced gametes. If fertilization occurs, this generally leads to
early embryonic death. However, it can sometimes lead to abnormalities in the offspring,
such as Down’s syndrome. See Lightner, ref. 8. Return to text.
- Borger, P., Evidence for the design of life: part
2—Baranomes, Journal of Creation 22(3):68–76,
2008. Return to text.
- Borger, P.,
The design of life: part 3 an introduction to variation inducing elements, Journal
of Creation 23(1):99–106, 2009. Return
to text.
- Longo, M.S., Carone, D.M., NISC Comparative Sequence Program,
Green, E.D., O’Neill, M.J., and O’Neill, R.J., Distinct retroelement
classes define evolutionary breakpoints demarcating sites of evolutionary novelty,
BMC Genomics 10:334, 2009. Return to text.
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