Chapter 15 Flashcards

1
Q

how many csome pairs do peas have

A

(Peas have seven

chromosome pairs

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2
Q

law of segregation

A

The two alleles for each gene separate

during gamete formation pg 343

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3
Q

law of indep assortmnt

A

Alleles of genes on nonhomologous
chromosomes assort independently during
gamete formation pg 343

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4
Q

chromosome theory of inheritance

A

According to this
theory, Mendelian genes have specific loci (positions) along
chromosomes, and it is the chromosomes that undergo
segregation and independent assortment

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5
Q

what did morgan do initally and what were the results in the f1 generatio

A

Morgan mated his white-eyed male fly with a red-eyed
female. All the F1 offspring had red eyes, suggesting that the
wild-type allele is dominant

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6
Q

A gene on

the Y chromosome—called SRY

A

, for sex-determining region

of Y—is required for the development of testes

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7
Q

sex linked gene

A

A gene located on either sex chromosome is called a sexlinked gene

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8
Q

x and y linked genes

A

The human X chromosome contains approximately 1,100 genes, which are called X-linked genes, while
genes located on the Y chromosome are called Y-linked genes.

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9
Q

what did people now find about the royal family and hemophilia? what caused it and what is the treatment now?

A

The human X chromosome contains approximately 1,100 genes, which are called X-linked genes, while
genes located on the Y chromosome are called Y-linked genes.

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10
Q

what happens to the x in female mammals and what happens

A

. In fact, almost all of
one X chromosome in each cell in female mammals becomes
inactivated during early embryonic development.As a result,
the cells of females and males have the same effective dose
(one active copy) of most X-linked genes. T

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11
Q

barr body

A

he inactive X in
each cell of a female condenses into a compact object called a
Barr body (discovered by Canadian anatomist Murray Barr),
which lies along the inside of the nuclear envelope. Most of the
genes of the X chromosome that forms the Barr body are not
expressed. In the ovaries, however, Barr body chromosomes
are reactivated in the cells that give rise to eggs, resulting in
every female gamete (egg) having an active X after meiosis

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12
Q

mosaic

A

As a consequence, females consist
of a mosaic of two types of cells: those with the active X derived
from the father and those with the active X derived from the
mother. After an X chromosome is inactivated in a particular
cell, all mitotic descendants of that cell have the same inactive X. Thus, if a female is heterozygous for a sex-linked trait,
about half of her cells will express one allele, while the others
will express the alternate allele

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13
Q

In humans, mosaicism can be observed in a recessive
X-linked mutation that prevents the development of sweat
glands. - explain

A

A woman who is heterozygous for this trait has patches

of normal skin and patches of skin lacking sweat glands.

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14
Q

Inactivation of an X chromosome involves modification

of the DNA and proteins bound to it called

A

histones, including attachment of methyl groups (—CH3) to DNA nucleotides.

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15
Q

A particular region of each X chromosome
contains several genes involved in the inactivation process. The
two regions

A

The
two regions, one on each X chromosome, associate briefly with
each other in each cell at an early stage of embryonic development. Th. Then one of the genes, called XIST (for X-inactive
specific transcript), becomes active only on the chromosome that
will become the Barr body. Multiple copies of the RNA product
of this gene apparently attach to the X chromosome on which
they are made, eventually almost covering it. Interaction of this
RNA with the chromosome initiates X inactivation, and the
RNA products of nearby genes help to regulate the process

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16
Q

morgans secon experiment description

A

Wildtype flies have gray bodies and normal-sized wings. In addition to these flies, Morgan had managed to obtain, through
breeding, doubly mutant flies with black bodies and wings
much smaller than normal, called vestigial wings. The mutant
alleles are recessive to the wild-type alleles, and neither gene is
on a sex chromosome. In his investigation of these two genes,
Morgan carried out the crosses shown in Figure 15.9. The first
was a P generation cross to generate F1 dihybrid flies, and the
second was a testcross.

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17
Q

conclusion to morgans second experiment with linkage

A

Conclusion Since most offspring had a parental (P generation)
phenotype, Morgan concluded that the genes for body color and wing
size are genetically linked on the same chromosome. However, the
production of a relatively small number of offspring with nonparental
phenotypes indicated that some mechanism occasionally breaks the
linkage between specific alleles of genes on the same chromosome.

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18
Q

genetic recombination

A

To understand this conclusion, we need to further explore genetic recombination, the production of
offspring with combinations of traits that differ from those
found in either P generation parent

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19
Q

crossing over

A

Later
experiments showed that this process, now called crossing
over, accounts for the recombination of linked genes. In
crossing over, which occurs while replicated homologous
chromosomes are paired during prophase of meiosis I, a set of
proteins orchestrates an exchange of corresponding segments
of one maternal and one paternal chromatid

20
Q

sturtevant’s reasoning for his linkage map theory

A

His reasoning was simple:
The greater the distance between two genes, the more points
there are between them where crossing over can occur. Using
recombination data from various fruit fly crosses, Sturtevant
proceeded to assign relative positions to genes on the same
chromosomes—that is, to map genes

21
Q

The frequency of crossing over is not actually

uniform over the length of a chromosome, as sturtevant assumed- why and what do linkage mps portray accurately

A

and therefore map units do not correspond to actual physical distances (in nanometers, for instance).
A linkage map does portray the order of genes along a chromosome, but it does not accurately portray the precise locations
of those genes.

22
Q

monosomic

A

Fertilization involving a gamete that has no copy of a particular chromosome will lead to a missing chromosome in the
zygote (so that the cell has 2n - 1 chromosomes); the aneuploid zygote is said to be monosomic for that chromosome.

23
Q

trisomic

A

ploid zygote is said to be monosomic for that chromosome.
If a chromosome is present in triplicate in the zygote (so that the
cell has 2n + 1 chromosomes), the aneuploid cell is trisomic
for that chromosome

24
Q

main reason for pregnancy loss

A

Monosomy and trisomy are
estimated to occur in 10–25% of human conceptions and are
the main reason for pregnancy loss. I

25
polyploidy
Some organisms have more than two complete chromosome sets in all somatic cells. The general term for this chromosomal alteration is polyploidy; the specific terms triploidy (3n) and tetraploidy (4n) indicate three and four chromosomal sets, respectivel
26
y. One way a triploid cell may arise | is by the
fertilization of an abnormal diploid egg produced by nondisjunction of all its chromosomes. Tetraploidy could result from the failure of a 2n zygote to divide after replicating its chromosomes. Subsequent normal mitotic divisions would then produce a 4n embryo.
27
In general, polyploids | are more nearly normal in appearance than
aneuploids. One extra (or missing) chromosome apparently disrupts genetic balance more than does an entire extra set of chromosomes.
28
deletion
A deletion occurs when a chromosomal fragment is lost
29
duplication
The “deleted” fragment may become attached as an extra segment to a sister or nonsister chromatid, producing a duplication of a portion of that chromosome
30
inversion
A chromosomal fragment may | also reattach to the original chromosome but in the reverse orientation, producing an inversion
31
translocation
A fourth possible result of | chromosomal breakage is for the fragment to join a nonhomologous chromosome, a rearrangement called a translocation
32
syndrome
. These individuals have a set of traits—a syndrome— | characteristic of the type of aneuploidy.
33
when do most cases of down syndorme come up
Most cases result from nondisjunction during meiosis I, and some research points to an age-dependent abnormality in meiosis
34
cml
chronic myelogenous leukemia (CML). This disease occurs when a reciprocal translocation happens during mitosis of cells that are precursors of white blood cell
35
what specifically occurs in cml and why does cancer occur
The exchange of a large portion of chromosome 22 with a small fragment from a tip of chromosome 9 produces a much shortened, easily recognized chromosome 22, called the Philadelphia chromosome (Figure 15.16). Such an exchange causes cancer by creating a new “fused” gene that leads to uncontrolled cell cycle progression. (The mechanism of gene activation will be discussed in Chapter 18.)
36
genomic imprinting
In recent years, however, geneticists have identified a number of traits in mammals that depend on which parent passed along the alleles for those traits. Such variation in phenotype depending on whether an allele is inherited from the male or female parent is called genomic imprinting. (Note that unlike sex-linked genes, most imprinted genes are on autosomes.) Using newer DNA sequence-based methods, about 100 imprinted genes have been identified in humans, and 125 in mice.
37
Genomic imprinting occurs during
gamete formation and | results in the silencing of a particular allele of certain genes.
38
after generation. Consider, for example, the mouse gene for insulin-like growth factor 2 (Igf2), one of the first imprinted genes to be identified - explain
Although this growth factor is required for normal prenatal growth, only the paternal allele is expressed (Figure 15.17a). Evidence that the Igf2 gene is imprinted came initially from crosses between normal-sized (wild-type) mice and dwarf (mutant) mice homozygous for a recessive mutation in the Igf2 gene. The phenotypes of heterozygous offspring (with one normal allele and one mutant) differed depending on whether the mutant allele came from the mother or the father pg 358
39
What exactly is a genomic imprint? It turns out that imprinting can involve either s
silencing an allele in one type of gamete (egg or sperm) or activating it in the other. In many cases, the imprint seems to consist of methyl (—CH3) groups that are added to cytosine nucleotides of one of the alleles. Such methylation may silence the allele, an effect consistent with evidence that heavily methylated genes are usually inactiv
40
. However, for a few genes, methylation has been | shown to activate expression of the allele.
This is the case for the Igf2 gene: Methylation of certain cytosines on the paternal chromosome leads to expression of the paternal Igf2 allele, by an indirect mechanism involving chromatin structure and protein-DNA interactions
41
extranuclear or cytoplasmic genes
Not all of a eukaryotic cell’s genes are located on nuclear chromosomes, or even in the nucleus; some genes are located in organelles in the cytoplasm. Because they are outside the nucleus, these genes are sometimes called extranuclear genes or cytoplasmic genes
42
Mitochondria, as well as chloroplasts and other plastids in plants, contain small circular DNA molecules that carry a number of genes. These organelles ...
reproduce themselves and transmit their genes to daughter organelles. Genes on organelle DNA are not distributed to offspring according to the same rules that direct the distribution of nuclear chromosomes during meiosis, so they do not display Mendelian inheritance
43
In most plants, | a zygote receives all its plastids from
the cytoplasm of the egg and none from the sperm, which contributes little more than a haploid set of chromosomes. An egg may contain plastids with different alleles for a pigmentation gene. As the zygote develops, plastids containing wild-type or mutant pigmentation genes are distributed randomly to daughter cells. The pattern of leaf coloration exhibited by a plant depends on the ratio of wild-type to mutant plastids in its various tissues.
44
Similar maternal inheritance is also the rule for mitochondrial genes in most animals and plants, because
the mitochondria passed on to a zygote come from the cytoplasm of the egg
45
The fact that mitochondrial disorders are inherited only from the mother suggests a way to avoid passing along these disorders. - explain
The chromosomes from the egg of an affected mother could be transferred to an egg of a healthy donor that has had its own chromosomes removed. This “two-mother” egg could then be fertilized by a sperm from the prospective father and transplanted into the womb of the prospective mother, becoming an embryo with three parents
46
After optimizing conditions for this approach in monkeys, (talking abt stopping ppl from having mitochondrial disorders)
researchers reported in 2013 that they have successfully carried out this procedure on human eggs. More research will be necessary to optimize experimental conditions for the health of the embryo, and eventual use of this procedure would require approval by the relevant federal agencies.
47
In addition to the rarer diseases clearly caused by defects in mitochondrial DNA, mitochondrial mutations inherited from a person’s mother may contribute to at least some types of
diabetes and heart disease, as well as to other disorders that commonly debilitate the elderly, such as Alzheimer’s disease. In the course of a lifetime, new mutations gradually accumulate in our mitochondrial DNA, and some researchers think that these mutations play a role in the normal aging process