3. Extensions to Mendelian Inheritance

What is the evidence that the ancient mitochondrial and chloroplast endosymbionts are related to the alphaproteobacteria and cyanobacteria, respectively?

Outline the steps required for a gene originally present in the endosymbiont genome to be transferred to the nuclear genome and be expressed, and for its product to be targeted back to the organelle of origin.

Consider the phylogenetic tree presented in the following figure (Figure 17.17). How were the origins of secondary endosymbiosis in the brown algae determined?

You are a genetic counselor, and several members of the family whose pedigree for an inherited disorder is depicted in Genetic Analysis 17.2 consult with you about the probability that their progeny may be afflicted. What advice would you give individuals III-1, III-2, III-4, III-6, III-8, and III-9?

A mutation in Arabidopsis immutans results in the necrosis (death) of tissues in a mosaic configuration. Examination of the mitochondrial DNA detects deletions of various regions of the mitochondrial genome in the tissues that are necrotic. When immutans plants are crossed with wild-type plants, the  are wild type, and the  are wild type and immutans in a 3:1 ratio. Explain the inheritance of the immutans mutation and a possible origin of the mitochondrial DNA deletions.

What type or types of inheritance are consistent with the following pedigree? 

What is the endosymbiotic theory, and why is this theory relevant to the study of extranuclear DNA in eukaryotic organelles?

A 50-year-old man has been diagnosed with MELAS syndrome. His wife is phenotypically normal, and there is no history of MELAS syndrome in either of their families. The couple is concerned about whether their children will develop the disease. As a genetic counselor, what will you tell them? Would your answer change if it were the mother who exhibited disease symptoms rather than the father?

The first person in a family to exhibit Leber hereditary optic neuropathy (LHON) was II-3 in the pedigree shown below, and all of her children also exhibited the disease. Provide two possible explanations as to why II-3's mother (I-1) did not exhibit symptoms of LHON.

Mutations in mitochondrial DNA appear to be responsible for a number of neurological disorders, including myoclonic epilepsy and ragged-red fiber disease, Leber's hereditary optic neuropathy, and Kearns-Sayre syndrome. In each case, the disease phenotype is expressed when the ratio of mutant to wild-type mitochondria exceeds a threshold peculiar to each disease, but usually in the 60 to 95 percent range.

Compared with the vast number of mitochondria in an embryo, the number of mitochondria in an ovum is relatively small. Might such an ooplasmic mitochondrial bottleneck present an opportunity for therapy or cure? Explain.

Mutations in mitochondrial DNA appear to be responsible for a number of neurological disorders, including myoclonic epilepsy and ragged-red fiber disease, Leber's hereditary optic neuropathy, and Kearns-Sayre syndrome. In each case, the disease phenotype is expressed when the ratio of mutant to wild-type mitochondria exceeds a threshold peculiar to each disease, but usually in the 60 to 95 percent range.

Given that these are debilitating conditions, why has no cure been developed? Can you suggest a general approach that might be used to treat, or perhaps even cure, these disorders?

In 1918, the Russian tsar Nicholas II was deposed, and he and his family were reportedly executed and buried in a shallow grave. During this chaotic time, rumors abounded that the youngest daughter, Anastasia, had escaped. In 1920, a woman in Germany claimed to be Anastasia. In 1979, remains were recovered for the tsar, his wife (the Tsarina Alexandra), and three of their children, but not Anastasia. How would you evaluate the claim of the woman in Germany?

Payne, B. A. et al. (2013) present evidence that a low level of heteroplasmic mtDNA exists in all tested healthy individuals.

What are two likely sources of such heteroplasmy?

Payne, B. A. et al. (2013) present evidence that a low level of heteroplasmic mtDNA exists in all tested healthy individuals.

What genetic conditions within a given mitochondrion are likely to contribute to such a variable pool of mitochondria?

The dodo bird (Raphus cucullatus) lived on the Mauritius Islands until the arrival of European sailors, who quickly hunted the large, placid, flightless bird to extinction. Rapid morphological evolution such as often accompanies island isolation had caused the bird's huge size and obscured its physical resemblance to any near relatives. However, sequencing of mitochondrial DNA from dodo bones reveals that they were pigeons, closely related to the Nicobar pigeon from other islands in the Indian Ocean. Why was mitochondrial DNA suited to the study of this extinct species?