Researchers in search of loci in the human genome that arelikely to contribute to the constellation of factors leading tohypertension have compared candidate loci in humans and rats[Stoll, M., et al. (2000). New Target Regions for Human Hypertensionvia Comparative Genomics. Genome Res. 10:473–482].Through this research, they identified 26 chromosomal regionsthat they consider likely to contain hypertension genes. Howcan comparative genomics aid in the identification of genesresponsible for such a complex human disease? The researchersstate that comparisons of rat and human candidate loci tothose in the mouse may help validate their studies. Why mightthis be so?

Researchers in search of loci in the human genome that arelikely to contribute to the constellation of factors leading tohypertension have compared candidate loci in humans and rats[Stoll, M., et al. (2000). New Target Regions for Human Hypertensionvia Comparative Genomics. Genome Res. 10:473–482].Through this research, they identified 26 chromosomal regionsthat they consider likely to contain hypertension genes. Howcan comparative genomics aid in the identification of genesresponsible for such a complex human disease? The researchersstate that comparisons of rat and human candidate loci tothose in the mouse may help validate their studies. Why mightthis be so?

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter15: Genomes And Genomics

Section: Chapter Questions

Problem 1QP: The gene controlling ABO blood type and the gene underlying nail-patella syndrome are said to show...

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Figure 19-18a shows a plot of P values (represented bythe dots) along the chromosomes of the dog genome.Each P value is the result of a statistical test of association between a SNP and body size. Other than the clusterof small P values near IGF1, do you see any chromosomalregions with evidence for a significant association between a SNP and body size? Explain
The gene controlling ABO blood type and the gene underlying nail-patella syndrome are said to show linkage. What does that mean in terms of their relative locations in the genome? What does it mean in terms of how the two traits are inherited with respect to each other?
Suppose a genome-wide association study(GWAS) investigation found a particularsingle nucleotide polymorphism (SNP) in acertain gene to be associated withhypertension. How could you identify thecausal link of the specific SNP tohypertension?
Let’s suppose that a species of mosquito has two different types ofsimple transposons that we will call X elements and Z elements.The X elements appear quite stable. In a population of 100 mosquitoes,it is found that every mosquito has 6 X elements, and theyare always located in the same chromosomal locations amongdifferent individuals. In contrast, the Z elements seem to movearound quite a bit. Within the same 100 mosquitoes, the number of Z elements ranges from 2 to 14, and the locations of the Z elementstend to vary considerably among different individuals. Explainhow one simple transposon can be stable and another simple transposoncan be mobile, within the same group of individuals.
In the early 1970s, Igor Dawid and Antonie Blacklerconducted classical experiments that first showed directly the maternal inheritance of mtDNA in vertebrates.Their studies used crosses between two closely relatedspecies of frogs, Xenopus laevis and Xenopus borealis,which have mtDNAs that vary in many nucleotides. Thetechniques they used at the time were not sensitiveenough to detect small amounts of paternal DNA. Whattechniques that are highly sensitive to small amounts ofDNA could be used today? How could you use thesetechniques to determine if paternal mitochondrial DNAwas present in the progeny of the interspecies cross?
When mice carrying the Avy allele exhibit a darker coat, thisphenotype is thought to be caused by dietary factors thatresult ina. a greater level of DNA methylation and a decrease in theexpression of the Agouti gene.b. a lower level of DNA methylation and a decrease in theexpressionof the Agouti gene.c. a greater level of DNA methylation and the overexpressionof the Agouti gene.d. a lower level of DNA methylation and the overexpression ofthe Agouti gene.
. 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.?
Traditional gene mapping has been applied successfully to a variety of organisms including yeast, fungi, maize, and Drosophila. However, human gene mapping has only recently shared a similar spotlight. What factors have delayed the application of traditional gene-mapping techniques in humans?
DNA sequencing of your own two β-globin genes (one from each of your two Chromosome 11s) reveals a mutation in one of the genes. given this information alone, should you worry about being a carrier of an inherited disease that could be passed on to your children? What other information would you like to have to assess your risk?
In the Human Genome Project, researchers have collectedlinkage data from many crosses in which the male washeterozygous for molecular markers and many crosses wherethe female was heterozygous for the markers. The distancebetween the same two markers, computed in map units, isdifferent between males and females. In other words, thelinkage maps for human males and females are not the same.Propose an explanation for this discrepancy. Do you think thesizes of chromosomes (excluding the Y chromosome) in humanmales and females are different? How could physical mappingresolve this discrepancy?
. Figure 18-14 presents haplotype data for the G6PD genein a worldwide sample of people.a. Draw a haplotype network for these haplotypes.Label the branches on which each SNP occurs.b. Which of the haplotypes has the most connectionsto other haplotypes?c. On what continents is this haplotype found?d. Counting the number of SNPs along the branchesof your network, how many differences are therebetween haplotypes 1 and 12?
. In 2015, an international team of scientists assembledthe complete genome sequences of two differentwoolly mammoths. Both specimens were discoveredburied in the permafrost of Siberia, the coldest inhabited place on earth. Through radiocarbon dating, itwas determined that one of the mammoths, found onWrangel Island off the Siberian coast, died about4000 years ago; the other mammoth, found in thetown of Oimyakon, died about 45,000 years ago.Analysis revealed that the genome sequences ofthese two animals differed significantly in the distribution of base pairs at which they are either homozygous or heterozygous. The Wrangel Island woollymammoth had an extreme excess of runs of homozygosity (ROHs), regions in which the animal was homozygous for all of the base pairs. About 23.4% ofthe Wrangel Island animal’s genome was composed ofROHs that were greater than 500 kb in length; someof these ROHs were in excess of 5 Mb long. In contrast, only 0.83% of the Oimyakon animal’s genomeconsisted of…