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In so-called “tortoiseshell” cats, X inactivation is observed as coat-color variegation ( [link] ). Females heterozygous for an X-linked coat color gene will express one of two different coat colors over different regions of their body, corresponding to whichever X chromosome is inactivated in the embryonic cell progenitor of that region. When you see a tortoiseshell cat, you will know that it has to be a female.

Photo of a tortoiseshell cat.
Embryonic inactivation of one of two different X chromosomes encoding different coat colors gives rise to the tortoiseshell phenotype in cats. (credit: Michael Bodega)

In an individual carrying an abnormal number of X chromosomes, cellular mechanisms will inactivate all but one X in each of her cells. As a result, X-chromosomal abnormalities are typically associated with mild mental and physical defects, as well as sterility. If the X chromosome is absent altogether, the individual will not develop.

Several errors in sex chromosome number have been characterized. Individuals with three X chromosomes, called triplo-X, appear female but express developmental delays and reduced fertility. The XXY chromosome complement, corresponding to one type of Klinefelter syndrome, corresponds to male individuals with small testes, enlarged breasts, and reduced body hair. The extra X chromosome undergoes inactivation to compensate for the excess genetic dosage. Turner syndrome, characterized as an X0 chromosome complement (i.e., only a single sex chromosome), corresponds to a female individual with short stature, webbed skin in the neck region, hearing and cardiac impairments, and sterility.

An individual with more than the correct number of chromosome sets (two for diploid species) is called polyploid    . For instance, fertilization of an abnormal diploid egg with a normal haploid sperm would yield a triploid zygote. Polyploid animals are extremely rare, with only a few examples among the flatworms, crustaceans, amphibians, fish, and lizards. Triploid animals are sterile because meiosis cannot proceed normally with an odd number of chromosome sets. In contrast, polyploidy is very common in the plant kingdom, and polyploid plants tend to be larger and more robust than euploids of their species.

Chromosome structural rearrangements

Cytologists have characterized numerous structural rearrangements in chromosomes, including partial duplications, deletions, inversions, and translocations. Duplications and deletions often produce offspring that survive but exhibit physical and mental abnormalities. Cri-du-chat (from the French for “cry of the cat”) is a syndrome associated with nervous system abnormalities and identifiable physical features that results from a deletion of most of the small arm of chromosome 5 ( [link] ). Infants with this genotype emit a characteristic high-pitched cry upon which the disorder’s name is based.

Photo shows boy with cri-du-chat syndrome at four different ages (ages two, four, nine, and twelve).
This individual with cri-du-chat syndrome is shown at various ages: (A) age two, (B) age four, (C) age nine, and (D) age 12. (credit: Paola Cerruti Mainardi)

Chromosome inversions and translocations can be identified by observing cells during meiosis because homologous chromosomes with a rearrangement in one of the pair must contort to maintain appropriate gene alignment and pair effectively during prophase I.

Questions & Answers

what are the properties of lipids?
Isiah Reply
explain why a fresh water fish excrete ammonia
Leonard Reply
plz answer my question
Leonard
sorry i meant it has a nucleous unlike plant cells lol
Lailah
What are eukaryotic cells?
Nwosueke Reply
cell with no nucleous so not a plant cell
Lailah
eukaryotic cells are membrane bound organelles that have a membrane bound nucleus
ojeen
where does the cell get energy for active transport processes?
A'Kaysion Reply
IDK maybe glucose
Lailah
what is synapsis
Adepoju Reply
how many turns are required to make a molecule of sucrose in Calvin cycle
Amina Reply
why Calvin cycle occurs in stroma
Amina
why do humans enhale oxygen and exhale carbondioxide?
Maryam Reply
why do humans enhale oxygen and exhale carbondioxide? For the purpose of breaking down the food
dil
what is allele
uzoka Reply
process of protein synthesis
SANTOSH Reply
what is cell
Zulf Reply
a cell is a smallest basic, structural and functional unit of life that is capable of self replication
Lucas
why does a fresh water fish excrete ammonia
Leonard
plz answer my question
Leonard
Ammonia is a toxic colorless gas and when its inside the fish biological system is converted to a less toxic compound then excreted in the form of urea. However too much ammonia will kill the fish " Ammonia Poisoning " which is a very common disease among fish.
This
what is cytoplasm
uzoka Reply
cytoplasm is fluid of cell.
Deepak
how many major types of Cloning
Saeed Reply
two
amir
two
Zulf
comparative anatomy of gymnosperms?
Meenakshi Reply
anatomy of gymnosperms
Meenakshi
how genes are regulated
Ainjue Reply
what is storage of glycogen
Student Reply
glycogen is a protein content
Najeem

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Source:  OpenStax, Concepts of biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11487/1.9
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