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Genetics Question 4
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- Equalizing the Expression of X Chromosome Genes in Males and Females Individuals with an XXY genotype are sterile males. If one X is inactivated early in embryogenesis, the genotype of the individual effectively becomes XY. Why will this individual not develop as a normal male?Almost all calico cats (one is pictured in FIGURE 10.7B) are female. Why? B When this calico cat was an embryo, one of the two X chromosomes was inactivated in each of her cells. The descendants of the cells formed her adult body, which is a mosaic for expression of X chromosome genes. Black fur arises in patches where genes on the X chromosome inherited from one parent are expressed; orange fur arises in patches where genes on the X chromosome inherited from the other parent are expressed. FIGURE 10.7 Animated X chromosome inactivation.Equalizing the Expression of X Chromosome Genes in Males and Females Males have only one X chromosome and therefore only one copy of all genes on the X chromosome. Each gene is directly expressed, thus providing the basis of hemizygosity in males. Females have two X chromosomes, but one is always inactivated. Therefore, females, like males, have only one functional copy of all the genes on the X chromosome. Again, each gene must be directly expressed. Why, then, are females not considered hemizygous, and why are they not afflicted with sex-linked recessive diseases as often as males are?
- X chromosome inactivation in a diploid XX female is not completely inactivated, explain?. Down’s syndrome in humans (trisomy 21), with 47 chromosomes in each diploid somatic cell, is characterized by which of the following genetic features? it involves a duplication of only one chromosome it involves a deletion of only one chromosome it involves a duplication of the entire genome it involves a duplication of only one gene it involves a deletion of only one geneA. Deletion of the SOX9 gene leads to sex reversal resulting in a person with karyotype 46XY being phenotypically Explain the genetic basis for this. B. Describe what would happen to the phenotype of a male with a mutation in the gene encoding SF1? Explain your answer.
- . A mature female wolf, with 78 diploid chromosomes in each somatic cell, produces haploid oocytes (egg cells) containing how many chromosomes per cell? 1 sex-determining chromosome (Y) and 38 autosomes 2 sex-determining chromosomes (XX) and 76 autosomes 1 sex-determining chromosome (X) and 39 autosomes 2 sex-determining chromosomes (XY) and 76 autosomes 1 sex-determining chromosome (X) and 38 autosomes4. The diagram below shows the original order of the genes on an autosome in Drosophila: C D EFGHI In each of the chromosomes illustrated below, this original chromosome has undergone a different structural rearrangement. Name the specific type of structural rearrangement that has occurred and draw a diagram to show how each would synapse with the normal chromosome during meiosis. (A) C D EFEFGHIJ (B) C D EIHG FJ (C) C D E F. Hydatiform moles are growths of undifferentiated tissues that form within the uterus during an abnormalmolar pregnancy. These moles are usually made up ofXX diploid cells, although some can be XY diploids.Surprisingly, all of the DNA in the nuclei of the cellsin the mole is paternal in origin. Most hydatiformmoles are benign, but because they sometimes candevelop into cancers, these moles should be removedsurgically when they are detected.a. What kinds of events could lead to the generationof a hydatiform mole?b. Hydatiform moles are diploid cells with the normalnumbers of genes and chromosomes. Why do youthink they develop as undifferentiated tissues ratherthan as normal embryos?
- Think Critically. Provide a concise explanation of your answer. A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern? Expression of the SYR gene on the Y chromosome gives rise to the male phenotype in humans. What do you think the inheritance pattern of SYR alleles is called? 22q11.2 deletion syndrome, also called DiGeorge syndrome, causes atypical parathyroid glands, a heart defect, and an underdeveloped thymus gland. About 85% of patients have a microdeletion of part of chromosome 22. A girl, her mother, and a maternal aunt have very mild DiGeorge syndrome. They all have a reciprocal translocation of chromosomes 22 and 2. How can a microdeletion and a translocation cause the same symptoms? Why were the people with the translocation less severely affected than the people with microdeletion? What other…Meiosis- a. Are the chromosomes at each pole during telophase 1 identical to chromosomes in the original cell (prior to S phase of cell cycle)? b. How about telophase 2?Mutations Can Uncouple chromosomal Sex from Phenotypic Sex Discuss whether the following individuals (1) have male or female gonads, (2) are phenotypically male or female (discuss Wolffian/Mllerian ducts and external genitalia), and (3) are sterile or fertile. a. XY, homozygous for a recessive mutation in the testosterone biosynthetic pathway, producing no testosterone b. XX, heterozygous for a dominant mutation in the testosterone biosynthetic pathway, which causes continuous production of testosterone c. XY, heterozygous for a recessive mutation in the MIH gene d. XY, homozygous fora recessive mutation in the SRY gene that abolishes function