Evolution, Fourth Edition (looseleaf)
Evolution, Fourth Edition (looseleaf)
4th Edition
ISBN: 9781605356969
Author: Douglas J. Futuyma
Publisher: Sinauer Associates, Inc.
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Chapter 16, Problem 1PDT
Summary Introduction

To explain: The evidence that incomplete lineage sorting (ILS) has affected DNA variation in humans, chimpanzees, and gorillas.

Introduction: Incomplete lineage sorting is a factor that makes it difficult to determine the phylogenetic relations between the radiation species. Radiation species are those species that descended from a common ancestor in a short time period. ILS has chances to be common between the commonly related species.

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Incomplete lineage sorting is said to occur when a phylogenetic tree developed using a single gene that has differences compared to the tree developed for population or species level. ILS can come as a problematic cause for determining phylogenies because of its increased frequencies. Studies have shown common ancestry between the humans, chimpanzees, and the gorillas. Molecular studies show that ILS has a significant effect on the DNA variation of these species. ILS has caused polymorphism to inherit in two or more species that are descended from the same common ancestor. For example, studies have shown a significant relation between six alleles of humans and 4 alleles of chimpanzees of the same gene at “major histocompatibility” loci A and B. These two-locus are found in both the species and indicate that these loci have arose the method of gene duplication in their common ancestor before speciation.

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In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
Payne, B. A. et al. (2013) present evidence that a low level of heteroplasmic mtDNA exists in all tested healthy individuals. (a) What are two likely sources of such heteroplasmy? (b) What genetic conditions within a given mitochondrion are likely to contribute to such a variable pool of mitochondria?
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