Regulation Mechanisms and Epigenetics Practice Test

Human chromosomes are divided into two arms, a long q arm and a short p arm. A karyotype is the organization of a human cell’s total genetic complement. A typical karyotype is generated by ordering chromosome 1 to chromosome 23 in order of decreasing size.

When viewing a karyotype, it can often become apparent that changes in chromosome number, arrangement, or structure are present. Among the most common genetic changes are Robertsonian translocations, involving transposition of chromosomal material between long arms of certain chromosomes to form one derivative chromosome. Chromosomes 14 and 21, for example, often undergo a Robertsonian translocation, as below.

A karyotype of this individual for chromosomes 14 and 21 would thus appear as follows:

Though an individual with aberrations such as a Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages.

In the DNA component of a chromosome, changes such as methylation result in alterations in how DNA is processed without changing its sequence. This is known as                     .

The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.

The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.

Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.

Histones are proteins that can interact with some sequences of DNA to help it coil into a more manageable arrangement within the nucleus. If the DNA-histone interaction is mediated primarily by intermolecular bonds, which of the following is likely true of histones?