Select all examples of mutations that are likely to be dominant to wild-type alleles. Check All That Apply An amorphic allele of Gene B when Gene Bis haploinsufficient. A hypomorphic allele of Gene A that reduces its function by 75%, when one wild-type allele of Gene A is sufficient for a wild-type phenotype. A hypermorphic allele of Gene C that encodes a constitutively active protein. An antimorphic allele of Gene D that encodes a protein that forms homodimers.
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- Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?. The human IGF2 gene is autosomal and maternallyimprinted. Copies of the gene received from themother are not expressed, but copies received fromthe father are expressed. You have found two allelesof this gene that encode two different forms of theIGF2 protein distinguishable by gel electrophoresis.One allele encodes a 60K (Kilodalton) blood protein;the other allele encodes a 50K blood protein. In ananalysis of blood proteins from a couple named Billand Joan, you find only the 60K protein in Joan’sblood and only the 50K protein in Bill’s blood. Youthen look at their children: Jill is producing only the50K protein, while Bill Jr. is producing only the 60Kprotein.a. With these data alone, what can you say about theIGF2 genotype of Bill Sr. and Joan?b. Bill Jr. and a woman named Sara have two children, Pat and Tim. Pat produces only the 60K protein and Tim produces only the 50K protein. Withthe accumulated data, what can you now say aboutthe genotypes of Joan and Bill Sr.?The Drosophila gene Sex lethal (Sxl) is deserving of itsname. Certain alleles have no effect on XY animals butcause XX animals to die early in development. Other alleles have no effect on XX animals but cause XY animals to die early in development. Thus, some Sxl allelesare lethal to females, while others are lethal to males.a. Would you expect a null mutation in Sxl to causelethality in males or in females? b. Why do Sxl alleles of either type cause lethality ina specific sex?The gene transformer (tra) gets its name from sexualtransformation, as some tra alleles can change XXanimals into morphological males, while other traalleles can change XY animals into morphologicalfemales.c. Which of these sex transformations would becaused by null alleles of tra and which would becaused by constitutively active alleles of tra?d. In contrast with Sxl, null tra mutations do notcause lethality either in XX or in XY animals.However, the Sxl protein regulates the productionof the Tra protein. Why…
- Leber Congenital Amaurosis (LCA) causes progressive vision loss due to defects in the gene that encodes RPE65 isomerase. Affected individuals are homozygous recessive for mutant alleles of the RPE65 gene. You are trying to determine the molecular nature of the mutations in three individuals with LCA. For ease of analysis, you may assume that each individual is homozygous for the same mutant allele (though the three individuals have different mutations than each other). You use the polymerase chain reaction to amplify DNA from each patient and you determine the sequence of the DNA and compare it to unaffected individuals. You identify the following differences. Note that the non-template strand of DNA is given and the changes are highlighted using red boldface. You can assume that the sequences are in the first reading frame (eg. the first three nucleotides of each sequence is a codon). The coding region of the gene is 1602 bp and the position of the sequences shown below is…The rosy (ry) gene of Drosophila encodes an enzymecalled xanthine dehydrogenase. Flies homozygous forry mutations exhibit a rosy eye color. Heterozygousfemales were made that had ry41 Sb on one homologand Ly ry564 on the other homolog, where ry41 andry564 are two independently isolated alleles of ry. Ly[Lyra (narrow) wings] and Sb [Stubble (short) bristles] are dominant mutant alleles of genes to the left and right of ry, respectively. These females arenow mated to males homozygous for ry41. Out of100,000 progeny, 8 have wild-type eyes, Lyra wings, andStubble bristles, while the remainder have rosy eyes.a. What is the order of these two ry mutations relativeto the flanking genes Ly and Sb?The following genotypes of two independently assorting autosomal genes determine coat color in rats:A-B- (gray); A-bb (yellow); aaB-(black); aabb (cream)A third gene pair on a separate autosome determines whetherany color will be produced. The CC and Cc genotypes allow coloraccording to the expression of the A and B alleles. However,the cc genotype results in albino rats regardless of the A and Balleles present. Determine the F1 phenotypic ratio of the followingcrosses: (a)AAbbCC * aaBBcc; (b) AaBBcc * AABbcc;(c) AaBbCc * AaBbcc.
- In Drosophila, a female fly is heterozygous for three mutations, Bareyes (B), miniature wings (m), and ebony body (e). Note that Bar isa dominant mutation. The fly is crossed to a male with normal eyes,miniature wings, and ebony body. The results of the cross are asfollows.111 miniature29 wild type117 Bar26 Bar, mimatue101 Bar, ebony31 Bar, miniature, ebony35 ebony115 miniature, ebonyInterpret the results of this cross. If you conclude that linkage isinvolved between any of the genes, determine that map distance(sbetween them.Construct a map for the genes d,e,f. Assume that: d and e = 3%; e and f = 5%. Give 2arrangements of the genes/maps.When the organization of adjacent genes with highly similar sequences is in an inverted orientation, this can reduce the expression of other genes that have similar sequence and are located on other chromosomes. Explain the mechanism of how this generally occurs.
- Suppose that you are studying the role of Protein B, which you believe plays a role in regulating PCD/Apoptosis in mice. You create two lines of mutant mice. One (bb) is homozygous for a loss-of-function allele of gene B. The other (Bb) is heterozygous, with one wild-type allele and one loss-of function allele. Initially you pay particular attention to two phenotypes of the resulting mice:(i) The morphology of their paws (see picture)(ii) The size of their brains & shape of their skulls. The bb mice have unusually large brains and unusual protrusions from their skulls. Suggest one other aspect of mouse morphology or physiology that you might expect to be altered in the absence of Protein B. Briefly explain your reasoning. Also, based on the apparent effect of Protein B on the likelihood of PCD/Apoptosis, would you classify Protein B as the product of a proto-oncogene or of a tumor suppressor gene?Suppose that you are studying the role of Protein B, which you believe plays a role in regulating PCD/Apoptosis in mice. You create two lines of mutant mice. One (bb) is homozygous for a loss-of-function allele of gene B. The other (Bb) is heterozygous, with one wild-type allele and one loss-of function allele. Initially you pay particular attention to two phenotypes of the resulting mice:(i) The morphology of their paws (see picture) (ii) The size of their brains & shape of their skulls. The bb mice have unusually large brains and unusual protrusions from their skulls. Based on these data, does it appear that Protein B, when present and active, favors or inhibits PCD/Apoptosis?Briefly explain your reasoning. The answer should address both the paw and brain/skull data.In an in situ hybridization experiment, a certain clonebound to only the X chromosome in a boy with no diseasesymptoms. However, in a boy with Duchenne musculardystrophy (X-linked recessive disease), it bound to theX chromosome and to an autosome. Explain. Could thisclone be useful in isolating the gene for Duchenne muscular dystrophy?