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Related Concept Videos

The Y Chromosome Determines Maleness02:19

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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Genetic Variation01:25

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Measuring Microbial Mutation Rates with the Fluctuation Assay
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Mutation Rate Variability across Human Y-Chromosome Haplogroups.

Qiliang Ding1, Ya Hu1,2, Amnon Koren1

  • 1Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY.

Molecular Biology and Evolution
|October 13, 2020
PubMed
Summary

The Y-chromosome mutation rate varies significantly between different haplogroups, challenging previous assumptions. This variation in mutation rates, not just confounding factors, explains differences in phylogenetic branch lengths in genetic studies.

Keywords:
DNA replication timingY chromosomehaplogroupmutation rate

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Area of Science:

  • Genetics
  • Population Genetics
  • Genomic Studies

Background:

  • Assumptions in Y-chromosome dating rely on a constant mutation rate across haplogroups.
  • Previous research noted differing phylogenetic branch lengths among Y-chromosome haplogroups.
  • The cause of this heterogeneity (mutation rate variation vs. confounders) was unclear.

Purpose of the Study:

  • To investigate the causes of Y-chromosome phylogenetic branch length heterogeneity.
  • To determine if Y-chromosome mutation rates vary across different haplogroups.
  • To assess the impact of mutation rate variation on genetic dating of patrilineal events.

Main Methods:

  • Analysis of whole-genome sequences from over 1,700 cultured male cell lines.
  • Examination of Y-chromosome mutations occurring within cell lines (somatic or in vitro).
  • Calculation of a relative Y-chromosome somatic mutation rate as a proxy for germline mutation rate.

Main Results:

  • Confirmed the presence of Y-chromosome branch length heterogeneity.
  • Identified substantial variation (up to 83.3%) in the Y-chromosome somatic mutation rate among haplogroups.
  • Demonstrated a positive correlation between the Y-chromosome mutation rate and phylogenetic branch length.

Conclusions:

  • Interhaplogroup Y-chromosome mutation rate variation is a significant factor contributing to branch length heterogeneity.
  • This finding has implications for the accuracy of dating patrilineal events using Y-chromosome data.
  • Rethinking the assumption of a uniform mutation rate is necessary for precise phylogenetic analyses.