Human Genetics Flashcards

1
Q

What fossil species is Lucy, and how old is she?

A

Lucy is an Australopithecus afarensis fossil, approximately 3.2 million years old.

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2
Q

What is the significance of Homo habilis in human evolution?

A

Homo habilis forms a link between the more ape-like Australopithecus species, such as Lucy, and modern precursors to humans, like Homo erectus.

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3
Q

Over what time period did Homo erectus exist, and how did its appearance change over time?

A

Homo erectus existed from 1.6 million years ago (MYA) to 0.3 MYA. Over time, later Homo erectus specimens increasingly resembled Homo sapiens.

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4
Q

What are the two competing hypotheses regarding the evolution of modern Homo sapiens?

A

The two competing hypotheses are the multiregional hypothesis and the out-of-Africa hypothesis. The multiregional hypothesis suggests that Homo sapiens evolved throughout Africa and Asia, while the out-of-Africa hypothesis suggests that Homo sapiens evolved in Africa and later migrated to other regions.

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5
Q

Which hypothesis regarding human evolution is supported by genetic data, and why?

A

Genetic data strongly support the out-of-Africa hypothesis, as it shows recent common ancestry of all humans, and greater genetic diversity is found in African populations.

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6
Q

How do mitochondrial DNA studies contribute to our understanding of human evolution?

A

Mitochondrial DNA studies trace maternal ancestry and show that the most recent common ancestor (MRCA) of modern humans, often called “Mitochondrial Eve,” lived around 200,000 years ago in Africa.

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7
Q

What is the significance of the Y chromosome in tracing human ancestry?

A

The Y chromosome, inherited only from fathers to sons, reveals a more recent MRCA (~50,000 years ago) and shows different Y lineages in various geographic regions, helping trace human migration patterns.

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8
Q

What is the role of recombination in shaping the human genome?

A

Recombination shuffles genetic material between chromosomes during reproduction, breaking up linkage between adjacent sections of the genome and leading to different gene trees across loci.

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9
Q

What evidence is there for hybridization between Homo sapiens and other hominins like Neanderthals and Denisovans?

A

Genetic evidence shows hybridization with Neanderthals in Eurasia and traces of Denisovan genes, especially in populations in Oceania, indicating interbreeding with humans who left Africa.

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10
Q

What is FST and how does it relate to population differentiation?

A

FST is a measure of genetic variation between populations relative to total variation. It quantifies how much allele frequencies differ between populations, indicating levels of genetic divergence.

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11
Q

How does genetic drift affect population differentiation over time?

A

Genetic drift leads to random changes in allele frequencies, causing isolated populations to diverge over time. With enough time, populations can become genetically distinct, potentially fixing different alleles.

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12
Q

How do humans’ perception of racial differences compare to actual genetic differences?

A

Human perception of racial differences is often exaggerated. Genetically, humans are 99.9% identical, with most variation (~85%) occurring within populations rather than between them.

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13
Q

What is trans-specific polymorphism, and how does it affect our understanding of evolutionary relationships?

A

Trans-specific polymorphism occurs when genetic variation persists across species due to balancing selection. It can result in gene trees that conflict with species trees, leading to incomplete lineage sorting.

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14
Q

What is incomplete lineage sorting, and how can it create discordance between gene trees and species trees?

A

Incomplete lineage sorting happens when genetic variation is not fully sorted before species diverge, causing different gene trees to show different evolutionary relationships than the species tree.

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15
Q

How do skin pigmentation and lactose tolerance genes reflect recent selection in humans?

A

Skin pigmentation reflects adaptation to UV exposure, while lactose tolerance reflects historical dairy farming practices. Both traits show genetic adaptation based on environmental pressures.

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16
Q

What do genetic bottlenecks and founder effects reveal about human genetic diversity?

A

Genetic bottlenecks, such as one that reduced our ancestors to ~10,000 individuals, and repeated founder effects as humans migrated globally, have reduced genetic diversity, making humans genetically similar.

17
Q
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