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By the end of this section, you will be able to:
  • Describe how a karyogram is created
  • Explain how nondisjunction leads to disorders in chromosome number
  • Compare disorders caused by aneuploidy
  • Describe how errors in chromosome structure occur through inversions and translocations

Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosomal structural rearrangements. Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal.

13.1a duplications and deletions

In addition to the loss or gain of an entire chromosome, a chromosomal segment may be duplicated or lost. Duplications and deletions often produce offspring that survive but exhibit physical and mental abnormalities. Duplicated chromosomal segments may fuse to existing chromosomes or may be free in the nucleus. Cri-du-chat (from the French for “cry of the cat”) is a syndrome associated with nervous system abnormalities and identifiable physical features that result from a deletion of most of 5p (the small arm of chromosome 5) ( [link] ). Infants with this genotype emit a characteristic high-pitched cry on which the disorder’s name is based.

 Photos show a boy with cri-du-chat syndrome. In parts a, b, c, and d of the image, he is two, four, nine, and 12 years of age, respectively.
This individual with cri-du-chat syndrome is shown at two, four, nine, and 12 years of age. (credit: Paola Cerruti Mainardi)

13.1b chromosomal structural rearrangements

Cytologists have characterized numerous structural rearrangements in chromosomes, but chromosome inversions and translocations are the most common. Both are identified during meiosis by the adaptive pairing of rearranged chromosomes with their former homologs to maintain appropriate gene alignment. If the genes carried on two homologs are not oriented correctly, a recombination event could result in the loss of genes from one chromosome and the gain of genes on the other. This would produce aneuploid gametes.

Chromosome inversions

A chromosome inversion     is the detachment, 180° rotation, and reinsertion of part of a chromosome. Inversions may occur in nature as a result of mechanical shear, or from the action of transposable elements (special DNA sequences capable of facilitating the rearrangement of chromosome segments with the help of enzymes that cut and paste DNA sequences). Unless they disrupt a gene sequence, inversions only change the orientation of genes and are likely to have more mild effects than aneuploid errors. However, altered gene orientation can result in functional changes because regulators of gene expression could be moved out of position with respect to their targets, causing aberrant levels of gene products.

Evolution connection

The chromosome 18 inversion

Not all structural rearrangements of chromosomes produce nonviable, impaired, or infertile individuals. In rare instances, such a change can result in the evolution of a new species. In fact, a pericentric inversion in chromosome 18 appears to have contributed to the evolution of humans. This inversion is not present in our closest genetic relatives, the chimpanzees. Humans and chimpanzees differ cytogenetically by pericentric inversions on several chromosomes and by the fusion of two separate chromosomes in chimpanzees that correspond to chromosome two in humans.

The pericentric chromosome 18 inversion is believed to have occurred in early humans following their divergence from a common ancestor with chimpanzees approximately five million years ago. Researchers characterizing this inversion have suggested that approximately 19,000 nucleotide bases were duplicated on 18p, and the duplicated region inverted and reinserted on chromosome 18 of an ancestral human.

A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes— ROCK1 and USP14 —that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. This suggests that one of the inversion breakpoints occurred between these two genes. Interestingly, humans and chimpanzees express USP14 at distinct levels in specific cell types, including cortical cells and fibroblasts. Perhaps the chromosome 18 inversion in an ancestral human repositioned specific genes and reset their expression levels in a useful way. Because both ROCK1 and USP14 encode cellular enzymes, a change in their expression could alter cellular function. It is not known how this inversion contributed to hominid evolution, but it appears to be a significant factor in the divergence of humans from other primates.

Violaine Goidts et al., “Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates,” Human Genetics . 115 (2004):116-122

Questions & Answers

Discuss the differences between taste and flavor, including how other sensory inputs contribute to our  perception of flavor.
John Reply
taste refers to your understanding of the flavor . while flavor one The other hand is refers to sort of just a blend things.
Faith
While taste primarily relies on our taste buds, flavor involves a complex interplay between taste and aroma
Kamara
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omeprazole
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Omeprazole Cimetidine / Tagament For the complicated once ulcer - kit
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Nency Reply
Not really sure
Eli
to drain extracellular fluid all over the body.
asegid
The lymphatic system plays several crucial roles in the human body, functioning as a key component of the immune system and contributing to the maintenance of fluid balance. Its main functions include: 1. Immune Response: The lymphatic system produces and transports lymphocytes, which are a type of
asegid
to transport fluids fats proteins and lymphocytes to the blood stream as lymph
Adama
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Oyindarmola Reply
Anatomy is the identification and description of the structures of living things
Kamara
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Oyerinde Reply
Anatomy is the study of the structure of the body, while physiology is the study of the function of the body. Anatomy looks at the body's organs and systems, while physiology looks at how those organs and systems work together to keep the body functioning.
AI-Robot
what is enzymes all about?
Mohammed Reply
Enzymes are proteins that help speed up chemical reactions in our bodies. Enzymes are essential for digestion, liver function and much more. Too much or too little of a certain enzyme can cause health problems
Kamara
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Prince
how does the stomach protect itself from the damaging effects of HCl
Wulku Reply
little girl okay how does the stomach protect itself from the damaging effect of HCL
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it is because of the enzyme that the stomach produce that help the stomach from the damaging effect of HCL
Kamara
function of digestive system
Ali Reply
function of digestive
Ali
the diagram of the lungs
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Diya Reply
37 degrees selcius
Xolo
37°c
Stephanie
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36.5
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37°c
Iyogho
the normal temperature is 37°c or 98.6 °Fahrenheit is important for maintaining the homeostasis in the body the body regular this temperature through the process called thermoregulation which involves brain skin muscle and other organ working together to maintain stable internal temperature
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37A c
Wulku
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Diya Reply
anaemia is the decrease in RBC count hemoglobin count and PVC count
Eniola
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Diya Reply
how does Lysin attack pathogens
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acid
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I information on anatomy position and digestive system and there enzyme
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anatomy of the female external genitalia
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Organ Systems Of The Human Body (Continued) Organ Systems Of The Human Body (Continued)
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what's lochia albra
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Source:  OpenStax, General biology part i - mixed majors. OpenStax CNX. May 16, 2016 Download for free at http://legacy.cnx.org/content/col11749/1.5
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