Concept explainers
To determine: The factors that might cause the apparent contradiction that gene that function as normal or wild-type in one primate may function as a disease-causing gene in another primate.
Introduction: The difference in the genome of the human and chimpanzee lead to an apparent contradiction that a gene may act differently in two different organisms. It could be normal or wild-type in one while disease-causing in another one.
To determine: Whether the given contradiction in the question is rare or common.
Introduction: The behavior of some genes differs from species to species. A gene may be normal and wild-type in one species, while in other species it may be a disease-causing gene.
To determine: The effect of the finding of gene contradiction on the comparative genomics to identify and design therapies for disease-causing genes in humans.
Introduction: Comparative genomics is a field of research in which the genome of the organisms is analyzed and compared. The genome analysis has become feasible due to the availability of several completely sequenced genomes.
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Concepts of Genetics (12th Edition)
- Gene A, which encodes alcohol dehydrogenase, is labeled with a red fluorophore in a FISH experiment with one chromosome of a homologous pair, with results shown below. Gene B is labeled in green and encodes Notch2NL, a gene which may help to explain brain size differences between humans and chimpanzees, and which with increased dosage, may lead to a condition referred to as macrocephaly (enlarged head circumference sometimes associated with learning disabilities). What can you infer about these two genes given the results seen below?arrow_forwardMost black bears (Ursus americanus) are black or brown in color. However, occasional white bears of this species appear in some populations along the coast of British Columbia. Kermit Ritland and his colleagues determined that white coat color in these bears results from a recessive mutation (G) caused by a single nucleotide replacement in which guanine substitutes for adenine at the melanocortin-1 receptor locus (mc1r), the same locus responsible for red hair in humans (K. Ritland, C. Newton, and H. D. Marshall. 2001. Current Biology 11:1468–1472). The wild-type allele at this locus (A) encodes black or brown color. Ritland and his colleagues collected samples from bears on three islands and determined their genotypes at the mc1r locus: Genotype Number AA 42 AG 24 GG 21 a. What are the frequencies of the A and G alleles in these bears? b. Give the genotypic frequencies expected if the population is in Hardy– Weinberg equilibrium. c. Use a chi-square test to compare the number of…arrow_forwardOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following question. GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS: What is the size in amino acid residues of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 is how many amino acid residues.arrow_forward
- One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question. PLEASE GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS What is the size in base pairs of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 isarrow_forwardOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following question. What is the NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201)?arrow_forwardIn the corn snake Pantherophis guttatus, there are several different color variants, including amelanistic snakes whose skin patterns display only red and yellow pigments. The cause of amelanism in these snakes was recently identified as the insertion of a transposable element into an intron in the OCA2 (oculocutaneous albinism) gene. How might the insertion of extra genetic material into an intron lead to a nonfunctional protein? H▾▾ B 2. = = 66 X² I A▾ X₂ Xarrow_forward
- https://ny.pbslearningmedia.org/resource/biot09.sci.life.gen.epigenetics/epigenetics/ In what way do the brown and yellow mice shown in the video differ?Why is this so?arrow_forwardYou are interested in studying a unique protein found in a rare wildflower found in the desert region of Atacama. The wild-type amino acid sequence isolated from this flower is: Wildtype: Arg-Lys-Thr-Leu-Gly-Arg A mutant for the gene that specifies this protein is isolated and the amino acid sequence of its protein is determined: Mutant: Arg-Lys-Thr-Leu-Gly-Gly a) Identity what the mutation changed in the amino acid sequence b) What is the effect of the mutation at the amino acid level? c) What is the effect of the mutation at the RNA level? d) What kind of mutation happened at the DNA level?arrow_forwardHistone proteins are among the most highly conserved proteins in eukaryotes. histone h4 proteins from a pea and a cow, for example, differ in only 2 of 102 amino acids. Comparison of the gene sequences shows many more differences, but only two change the amino acid sequence. These observations indicate that mutations that change amino acids must have been selected against during evolution. Why do you suppose that amino- acid-altering mutations in histone genes are deleterious?arrow_forward
- Annotation of the human genome sequence reveals a discrepancy between the number of protein-coding genes and the number of predicted proteins actually expressed by the genome. Proteomic analysis indicates that human cells are capable of synthesizing more than 100,000 different proteins and perhaps three times this number. What is the discrepancy, and how can it be reconciled?arrow_forwardMutational signatures of p53 are shown in this image (G.P. Pfeifer et al., Nature, 21(48), 2002) for the three types of cancer with the highest death rates in the United States: lung (~225,000 deaths in 2016), breast (246,000), and colorectal (381,000). These data can be obtained by sequencing the gene that encodes p53. Approximately 85 percent of lung cancers occur in smokers. Based on these data, calculate how many deaths due to lung cancer among nonsmokers were reported in 2016. How much does smoking increase the likelihood of death due to lung cancer?arrow_forwardThe flower color of genetically identical hemp plants (clones) is purple when the flowers develop under cold environment (<14 °C) and white when they develop under hot environment (>30 °C). Describe in detail a molecular mechanism that could explain how these two groups of genetically identical plants differ in their gene expressions to produce different flower colors?arrow_forward
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