Human Genetics Concepts and Applications 11th Edition Ricki Lewis Solutions Manual

Human Genetics Concepts and Applications 11th

Edition Ricki Lewis Solutions Manual

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Chapter 6 Matters of Sex

READINGS

Chapter Opener
Stem Cell and Gene Therapies Save Boys’ Lives

Clinical Connection 6.1

Colorblindness

In Their Own Words

The Y Wars

CHAPTER OVERVIEW

In humans, genes determine gender, but sexual identity and sexual

feelings are sculpted over time by the interaction of biological and little
understood environmental factors. Males have one X and one Y
chromosome, and females have two X chromosomes. Genes linked on
the X and Y chromosomes show distinctive patterns of inheritance. X
inactivation makes the female equal the male in expression of X-linked
genes. Gender also influences the expression of genes on autosomes,
and this results in additional phenotypic differences between the sexes.
Parental origin is imprinted on certain genes early in development and
this exerts an influence of gender on phenotype.

CHAPTER OUTLINE

6.1 Our Sexual Selves

1. Maleness or femaleness is a trait that is genetically determined at conception.

2. Males inherit an X and a Y chromosome. Females inherit two X chromosomes.
3. Sexual identity and sexual feelings are complex traits sculpted over time by the
interaction of biological and environmental factors.

Sexual Development

1. Around the sixth week of embryonic development, sexual differentiation begins on

paired indifferent gonads, forming testes or ovaries.
2. A gene on the X chromosome, Wnt, is essential for development as a female, and a
gene on the Y chromosome, SRY, is required for male development. Other genes
guide specialization of the reproductive system.

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prior written consent of McGraw-Hill Education.
Sex Chromosomes

1. Human females are homogametic (XX) and males are heterogametic (XY).
2. In some species, such as birds and snakes, females are heterogametic and males
are homogametic.
3. The Y chromosome has few identified genes; the X chromosome has several
thousand genes.
4. Linkage mapping of the Y chromosome has been difficult because it has many
palindromic sequences.
5. Pseudoautosomal regions at both tips of the Y chromosome contain genes that have
counterparts on the X chromosome.
6. Most of the Y chromosome is male specific and is termed MSY.

The Phenotype Forms

1. The SRY gene is on the Y chromosome. It encodes a transcription factor that

triggers a cascade of gene action that initiates development of male features while
suppressing development of female features.
2. Abnormalities in these male factors may disrupt the developmental pathway.
3. Individuals may be chromosomally one sex, but look like the other sex.
4. The old term hermaphrodite refers to individuals with male and female sexual
structures. “Intersex” refers to individuals with mixed or ambiguous sexual structures.
5. Pseudohermaphrodites exhibit male and female sexual structures at different stages.

Is Homosexuality Inherited?

1. Evidence is accumulating that a number of genetic and environmental influences

contribute to homosexuality, but the roots are poorly understood.
2. Studies indicate that genetics exerts a more powerful influence on homosexuality in
males than females.

Sex Ratio

1. Mendel’s first law predicts nearly equal numbers of males and females at birth.
2. Sex ratio is the proportion of males to females in a population.
3. The primary sex ratio is at conception, secondary at birth, and tertiary at maturity.
4. In human populations, boys are expected to slightly outnumber girls at birth. Societal
practices such as sex selection, abortion, and infanticide alter the natural sex ratio.
5. Sex ratios change later in life reflecting differential environmental and medical
influences on males and females. Females outnumber males later in life.

6.2 Traits Inherited on Sex Chromosomes

1. Y-linked traits are passed on the Y chromosome, and X-linked traits on the X.
2. Y-linked traits are rare because the Y chromosome has few genes.
3. Males are hemizygous for X-linked genes, which are expressed.
4. Females express X-linked traits like those that are autosomally inherited, requiring
two copies of recessive alleles.
5. X-linked mutations cause a disproportionately large number of genetic conditions.
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prior written consent of McGraw-Hill Education.
X-Linked Recessive Inheritance

1. Heterozygous women for X-linked genes who lack symptoms are called carriers.
2. X-linked recessive traits pass from carrier mothers to sons with a 50% probability.
3. An allele can be passed from hemizygous males to daughters if the phenotype is not
severe enough to hamper reproduction.
4. X-linked traits are not transmitted from father to son.

X-Linked Dominant Inheritance

1. X-linked dominant conditions are expressed in both males and females.

2. These conditions are generally more severe in males.

Solving a Problem of X-Linked Inheritance

1. Mendel’s law of segregation is used to predict genotypes and phenotypes of

offspring, with sex chromosome constitution followed in Punnett squares.

6.3 Sex Limited and Sex Influenced Traits

Sex-limited Traits

1. A sex-limited trait (which may be autosomal or sex-linked) affects body parts or

functions present in only one gender.

Sex-Influenced Traits

1. A sex-influenced allele is dominant in one sex but recessive in the other.

2. Hormonal differences between males and females typically cause the differential
expression of sex-influenced traits.

6.4 X Inactivation

1. X inactivation compensates for the difference in the number of X chromosomes

between males and females.

Equaling Out the Sexes

1. Early in female development, the maternal or paternal X chromosome is mostly

turned off in each cell.
2. The XIST gene in the X inactivation center on the X chromosome encodes RNA that
inactivates certain genes.
3. X inactivation is an epigenetic change that reflects methylation of temporarily
silenced genes. The inactivation is lifted in germline cells.
4. The inactivated X takes up stain and appears as a Barr body in the cell.

Copyright © 2016 McGraw-Hill Education. All rights reserved. No reproduction or distribution without the
prior written consent of McGraw-Hill Education.
Effect of X Inactivation on the Phenotype

1. A female may express an X-linked trait if the mutant allele is on the active X in
affected tissues.
2. A carrier of an X-linked trait who expresses the phenotype due to X inactivation is a
manifesting heterozygote.
3. A number of human and animal conditions demonstrate the effect of X inactivation
on phenotype. A calico cat is an example.
4. X inactivation of either the maternal or paternal X chromosome leads to two different
cell populations in the female. The ratio can be skewed if one cell population has a
higher division rate than the other.

6.5 Parent-of-Origin Effects

1. For certain genes in mammals, phenotype (age of onset or symptom severity) varies
depending upon the gender of the parent that passes on the trait or condition.

Genomic Imprinting

1. In genomic imprinting, methyl groups cover a gene or linked genes and block their
expression. This is an epigenetic modification.
2. For a particular gene, the allele from the mother or the father is always silenced
(imprinted).
3. Imprints pass from cell to cell by mitosis, but not from generation to generation
through meiosis. Imprints are removed during meiosis and reset.
4. The function of genomic imprinting is poorly understood, but it may indicate that two
parents are necessary. It may also explain some cases of incomplete penetrance.

Imprinting Disorders in Humans

1. More than 156 human genes are known to be imprinted, and at least 60 of these
affect health when abnormally expressed.
2. Prader-Willi and Angelman syndromes are imprinting disorders in humans.

Different Timetables in Sperm and Oocyte Formation

1. Some parent-of-origin effects may reflect the different timetables of meiosis in the
male and female. Male meiosis offers most chances for errors to occur, and may
explain why Huntington disease is more severe when inherited from the father.

IDEAS FOR CLASSROOM DISCUSSION

1. Middlesex is a Pulitzer prizewinning novel by Jeffrey Eugenides that is about an

individual with 5-alpha reductase deficiency. Students can read the book and consult
http://www.isna.org/books/middlesex for further information about intersex
conditions. Discuss the difficulties of living with this condition.
2. Select a nation and explore and compare the long-term consequences of attempts to
alter sex ratio.
Copyright © 2016 McGraw-Hill Education. All rights reserved. No reproduction or distribution without the
prior written consent of McGraw-Hill Education.
3. Consult the websites for Drs. David Page (http://pagelab.wi.mit.edu/) and Jennifer A.
Marshall-Graves
(http://www.latrobe.edu.au/scitecheng/about/staff/profile?uname=JGraves) (see In
Their Own Words) for updates on what we know about the Y and X chromosomes.
4. Discuss genetic evidence that homosexuality is a variant of human behavior and not
a disease. Find information about how it was once regarded (such as
http://psychology.ucdavis.edu/faculty_sites/rainbow/html/facts_mental_health.html).
5. Discuss how the ability of XIST RNA to silence genes can be used to treat trisomies.

DNA SCIENCE BLOG POSTS (http://blogs.plos.org/dnascience/)

Of Tissue Engineered Vaginas and Default Options

http://blogs.plos.org/dnascience/2014/05/15/tissue-engineered-vaginas-default-options/

Male DNA in Female Brains Revisited

http://blogs.plos.org/dnascience/2012/10/25/male-dna-in-female-brains-revisited/

WEBSITES

1. Genetics Home Reference. A guide to the Y chromosome.

http://ghr.nlm.nih.gov/chromosome/Y
2. Genetics Home Reference. A guide to the X chromosome.
http://ghr.nlm.nih.gov/chromosome/X
3. Central Intelligence Agency list of sex ratio by nation to identify discrimination
https://www.cia.gov/library/publications/the-world-factbook/fields/2018.html
4. Disorders of sex development http://www.med.umich.edu/yourchild/topics/dsd.htm
5. X inactivation animation http://www.hhmi.org/biointeractive/x-inactivation
6. Geneimprint: the Genomic Imprinting Website http://www.geneimprint.com/

ANSWERS TO REVIEW QUESTIONS

1. Sex is expressed at the chromosomal level as inheriting XX or XY; at the gonadal

level by developing ovaries or testes; at the phenotypic level by developing male or
female internal and external structures; and at the gender identity level by feelings.

2. Genes in the pseudoautosomal region are the same as certain X-linked genes, but
X-Y genes share only sequence similarities.

3. a. female b. female c. female

4. Absence of the SRY transcription factor causes the Mullerian ducts to develop into
ovaries. The ovaries produce female hormones, which influence the development of
external and internal reproductive structures.

5. Feelings of very young children; twin studies in which identical twins are more likely
to both be homosexual than are fraternal twins; behavior in many animal species;
genes on the X chromosome that segregate with homosexuality.
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prior written consent of McGraw-Hill Education.
6. Dominant X-linked alleles cause serious problems and abnormalities, and a
homozygous dominant woman would not have a second wild type allele on the other
X chromosome to temper the effects.

7. Males with X-linked dominant conditions are rare because the phenotype is extreme
due to the lack of a second X chromosome, and because the mother would have to
have the associated condition and would likely not be well enough to reproduce.

8. Mendel’s first law accounts for the sex ratio at birth—equal distribution of sex
chromosomes in meiosis.

9. An X-linked trait appears usually in males and may affect structures or functions not
distinct to one sex. A sex-limited trait affects a structure or function distinct to one
sex. A sex-influenced trait is inherited as a recessive in one sex and dominant in the
other.

10. Coat color in cats is X-linked. In females, one X chromosome in each cell is
inactivated, and the pattern of a calico cat's coat reflects which cells express which
coat color allele. A male cat, with only one coat color allele, would have to inherit an
extra X chromosome to be tortoiseshell or calico.

11. Inactivation of the gene in some cells but not others results in a patchy phenotype.

12. Each cell in a female's body contains only one active X chromosome, which makes
females genetically equivalent, in terms of X-linked genes, to males, who have only
one X chromosome.

13. Mouse zygotes with two female pronuclei or two male pronuclei are abnormal. In
humans, two male and one female genome in the same embryo develops into
placental tissue, whereas two female and one male genome develops into a normal
embryo with an abnormal placenta.

14. Genomic imprinting

ANSWERS TO APPLIED QUESTIONS

1. a. The causes of death by age and gender b. 97 c. Bangladesh

2. a. 1/2 b. 1/2 c. 1/2

3. The unevenness of the teeth of affected females may reflect expression of the defect
in only some cells as the result of X inactivation.

4. Rett syndrome might be passed from mother to son if the mutant allele is silenced in
her brain cells, so that she has a mild phenotype and is well enough to reproduce.

5. The drug would allow expression of the gene from the paternal chromosome that
might compensate for the deletion in the maternal chromosome 15.
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prior written consent of McGraw-Hill Education.
Copyright © 2016 McGraw-Hill Education. All rights reserved. No reproduction or distribution without the
prior written consent of McGraw-Hill Education.
ANSWER TO WEB ACTIVITIES

1. An example is Rett syndrome, OMIM 312750, which causes autism, dementia, loss
of hand use, jerky movements, seizures, and poor growth.

2. Examples are 1) Cornelia de Lange syndrome, which causes growth retardation,

characteristic facial features, and intellectual disability. This comes from the mother.
2) Wolf-Hirschhorn syndrome, with severe growth retardation, microcephaly, “Greek
helmet face,” heart defects, and cleft lip or palate. It comes from the father.

ANSWERS TO CASE STUDIES AND RESEARCH RESULTS

1. a. H b. B, F c. A d. D e. E f. B, F g. D h. H i. D

2. 1/4

3. Pedigree.

I
Edgar Florence

II
Phil Maude Harold Shirley

III
Marsha Alvin Simon

4. SRY

5. Maureen can see more nuances of color than most people.

ANSWERS TO KEY CONCEPTS QUESTIONS

6.1
1. XX female, XY male
2. Indifferent gonads begin to develop at week five. Depending upon expression of
certain genes, one set of structures (the Mullerian ducts) continues development
toward female or the other set (Wolffian ducts) continues toward male.

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prior written consent of McGraw-Hill Education.
 3. The Y chromosome is riddled with palindromes and has some DNA sequences
that are also on the X chromosome.
4. Androgen insensitivity syndrome is caused by a mutation in a gene on the X
chromosome that leads to absence of androgen receptors. The XY individual
looks female. 5-alpha reductase deficiency inhibits testosterone activity. The
individual is male on the inside and female on the outside until puberty, when the
adrenal glands secrete testosterone. In congenital adrenal hyperplasia due to 21-
hydroxylase deficiency, an enzyme block causes testosterone to build up, and an
XX individual looks male.
5. We do not really know how the environment may contribute to homosexuality, but
genes are not entirely the cause.
6. Sex ratio is the proportion of males to females in a particular population at a
particular time.

6.2
1. Males express genes on the X chromosome but females require two recessive
alleles for expression, like for autosomal traits.
2. X-linked conditions are rare in males because the phenotype is too severe to be
compatible with life after the prenatal period, because males have only one
allele—not a second one to mask the effects.
3. Mendel’s first law still applies to X-linked traits in females because the two X
chromosomes separate during meiosis. The same is true of the X and Y in
males.

6.3

1. A sex-limited trait affects a structure or function in only males or only females.

2. A sex-influenced trait is caused by a genotype that is dominant in one sex but
recessive in the other.

6.4

1. X inactivation is an epigenetic modification that silences about 75% of the genes

on one X chromosome in females with methyl groups.

2. 8-celled embryo

3. The effects of X inactivation are noticeable in heterozygotes because some cells

express genes on one X chromosome yet other cells express alleles on the other
X chromosome.

6.5
1. In genomic imprinting, methyl groups cover a gene or linked genes and block
their expression. This is an epigenetic modification.
2. Binding of methyl groups blocks access of DNA to transcription into RNA, which
is necessary for the cell to produce the encoded protein.
3. Disease can result from abnormal imprinting if a normally imprinted allele is
expressed, or a normally expressed allele is imprinted.

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prior written consent of McGraw-Hill Education.
 4. Male meiosis provides more opportunities for DNA replication errors to occur,
causing mutations that show up in sperm.

ADDITIONAL QUESTIONS

1. Why is X inactivation an example of genomic imprinting?

2. Why is hemophilia B not present in the current royal family in England?

3. Absence of an enzyme causes a syndrome of cataracts (clouding of the lenses),

intellectual disability, and kidney problems. Analysis of blood cells from a woman
known to be a carrier because her father has the condition shows half normal
enzyme activity, whereas a test of skin cells shows no enzyme activity. Explain these
findings.

4. What might the effect be of a mutation in the XIST gene?

5. In the Spoorman family, three sisters are infertile, and each has one X and one Y
chromosome. They are diagnosed with androgen insensitivity syndrome. How does
this explain the fact that their phenotypes do not match their genotypes?

6. Does "homogametic" or "heterogametic" refer to sex at the chromosomal, gonadal,

phenotypic, or gender identity level?

7. Amelogenesis imperfecta is sex-linked recessive and causes abnormal tooth

enamel. Jerry and Elaine each have this trait. What is the probability that their son
and daughter inherit the condition?

8. How does a hemizygote differ from a manifesting heterozygote?

ANSWERS TO ADDITIONAL QUESTIONS

1. Gene expression differs in the sexes

2. Figure 6.7 shows that King Edward VII, who was Queen Victoria’s son and led to the
current royal family, did not inherit the hemophilia B mutant allele.

3. X inactivation

4. Non-random X inactivation

5. Their cells, although chromosomally male, do not respond to male sex hormones.

6. Chromosomal

7. A male lacks a second X to mask the effects of the one bearing the mutant allele

8. 100%

9. A hemizygote is male and a manifesting heterozygote is female.

Copyright © 2016 McGraw-Hill Education. All rights reserved. No reproduction or distribution without the
prior written consent of McGraw-Hill Education.
Human Genetics Concepts and Applications 11th Edition Ricki Lewis Solutions Manual

Copyright © 2016 McGraw-Hill Education. All rights reserved. No reproduction or distribution without the
prior written consent of McGraw-Hill Education.

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