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As Discussed in Campbell Biology, 9 Ed. and in Essentials of Genetics (Klug and Cummings), 3 Ed

The document discusses sex determination and inheritance patterns of sex-linked genes and disorders in humans and other species. In humans, the presence of the SRY gene on the Y chromosome determines male development, while its absence results in female development. Examples of X-linked recessive disorders that affect males more severely than females are provided, such as Duchenne muscular dystrophy, hemophilia, and androgen insensitivity syndrome. Sex determination can also be influenced by environmental factors like temperature in some non-mammalian species. Thomas Hunt Morgan's studies of fruit flies were influential in supporting chromosomal inheritance patterns.

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251 views20 pages

As Discussed in Campbell Biology, 9 Ed. and in Essentials of Genetics (Klug and Cummings), 3 Ed

The document discusses sex determination and inheritance patterns of sex-linked genes and disorders in humans and other species. In humans, the presence of the SRY gene on the Y chromosome determines male development, while its absence results in female development. Examples of X-linked recessive disorders that affect males more severely than females are provided, such as Duchenne muscular dystrophy, hemophilia, and androgen insensitivity syndrome. Sex determination can also be influenced by environmental factors like temperature in some non-mammalian species. Thomas Hunt Morgan's studies of fruit flies were influential in supporting chromosomal inheritance patterns.

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dacspinlac
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As discussed in Campbell Biology, 9th Ed. and in Essentials of Genetics (Klug and Cummings), 3rd Ed.

In humans:
o Before 2 mos old, gonads are generic/indifferent o Development into ovaries/testes depends on presence of ___

SRY = sex-determining region of Y


o SRY absent gonads develop into ovaries o Sex-reversed males: XX, but w/ SRY

SRY transferred from Y to X during translocation

http://iws.inha.ac.kr/~biology/lab9/genetics/genetics4.html

Sex determination and environment


o Taleoporia tubulosa (moth) (Z-W system)

Warm temp Z chromosome found on inner spindle more females Cooler temp Z chromosome moves to outer pole more males
o Macroclemys temminckii (alligator snapping turtle)

Incubation of eggs <22oC or >28oC more females 22oC < incubation of eggs < 28oC more males
o Emys orbicularis (European pond turtle)

Aromatase: androgens estrogens Higher temp increased aromatase activity more females

http://www.sciencephoto.com, http://turtle-pictures.blogspot.com

Sex-linked gene: located on either sex chromosome


o Y-linked genes (e.g., SRY)

Father son Only a few genes; most help determine sex


o X-linked genes

Father daughter, mother son/daughter ~1,100 genes, many unrelated to sex

http://www.sciencephoto.com

X-linked recessive disorders


o Males > females

Hemizygous male > homozygous females


o Examples:

Color blindness Duchenne muscular dystrophy Hemophilia Androgen insensitivity syndrome

http://colorvisiontesting.com/online%20test.htm

homozygous

heterozygous

hemizygous

Match the descriptions below to the correct Punnet square above:

Duchenne muscular dystrophy


o ~ 1/3,600 male infants o Cause: defective gene for

dystrophin (muscle protein) o Symptoms: usually before age 6, or as early as infancy


Progressive weakening of muscles Loss of coordination
o Average life expectancy: age 25 o More info:

Alfredo Ferarri, son of Enzo Ferarri

o Treatment: No known cure, only to control symptoms

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001724/

http://www.carloft.at/en-oldtimer-ferrari.shtml

Hemophilia/haemophilia
o Hemophilia A:

The Romanovs

o
o o

o
o

1 in ~5,000 to 10,000 male births Hemophilia B: 1 in ~20,000 to 34,000 male births Cause: absence of one or more proteins required for blood clotting Main symptom: bleeding Treatment: IV replacement of missing clotting factor Average life expectancy: varies w/ severity and adequate treatment More info: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001564/

http://www.royaltyinthenews.com/tag/romanovs/

http://hbio-mast.blogspot.com, http://womenshistory.about.com, http://www.nydailynews.com, http://en.wikipedia.org

http://en.wikipedia.org http://www.thedailybeast.com http://ring.wikia.com

Androgen Insensitivity Syndrome (AIS)


o Cause: defective AR (androgen receptor) gene
o 46, XY; resistant to androgens

Birth: evidence of feminization/undermasculinization of external genitalia Puberty: abnormal secondary sexual development Infertility
o 3 types

Complete (CAIS)
Typical female external genitalia Lacks female internal organs

Partial (PAIS)
Predominantly male or female genitalia, or ambiguous

Mild IPAIS)
Typical male external genitalia Impaired sperm development or impaired masculinization

Androgen Insensitivity Syndrome (AIS)


o More info: http://www.ncbi.nlm.nih.gov/books/NBK1429/
o Related reads:

1. My AIS Story: An AIS woman shares how she accidentally found out in her late 20s she was genotypically male, a fact hidden from her by her doctors since she was a young teenager. 2. Olympic Games and the tricky science of telling men from women: Originally designed to prevent men from competing in women's events, it is based on the premise that competitors can be sorted into two categories via established scientific rules. But the biological boundaries of gender aren't always clear. 3. Caster Semenya and the IOCs Olympics Gender Bender: The reason so many methods have been adopted and then abandoned is because there is no single indicator that can be used to definitively distinguishes between the sexesnot chromosomes, nor hormones, nor secondary characteristics, nor external appearance. (Disclaimer: Caster Semenya has never been confirmed to have AIS, nor does this article mention AIS, but it has a good discussion of how gender testing by the IOC has evolved, underscoring the difficulty of drawing the lien between male and female.)

X-inactivation (lyonization) in female mammals


o Barr body

Murray Barr Inactive X chromosome: most genes here not expressed


o Occurs randomly and independently

Two types of cells (mosaicism): active paternal X, active maternal X Mmm shlrrrp shlrrrp shlrrrp
http://www.buzzle.com/articles/calico-cats-personaility.html

Silly cat.

Thomas

Hunt Morgans

fly room
o Drosophila

melanogaster (fruit fly)


Prolific breeder
Single mating = hundreds of offspring Generation time = 2 wks

4 prs of chromosomes
3 autosomes XX or XY

w+

Significance
o Supports chromosomal

theory of inheritance o Indicates that genes located on sex chromosomes exhibit unique inheritance patterns

Domestic fowl plumage


o Autosomal genes expressed

only in either males or females

Genotype Female
HH Hh hh

Phenotype Male
Hen-feathered Hen-feathered Cock-feathered Hen-feathered Hen-feathered Hen-feathered

http://www.ehow.com/info_8431214_difference-between-chickens-hens.html

Pattern baldness
o Different expression due to

Genotype b1b1 b1b2 b2b2

Phenotype Male Bald Bald Not bald Female Bald Not bald Not bald

hormonal difference between sexes

http://st.tumblr.com, http://www.ibtimes.co.uk, http://www.nlm.nih.gov

http://express.howstuffworks.com/gollum6.htm

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