Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

A molecular approach to estimating the human deleterious mutation rate

A S Kondrashov1, J F Crow

  • 1Institute of Mathematical Problems of Biology, Pushchino, Moscow Region, Russia.

Human Mutation
|January 1, 1993
PubMed
Summary

This study introduces a novel method to measure the human genomic deleterious mutation rate by comparing neutral and overall DNA evolution rates. The findings have significant implications for understanding human genetics and evolutionary biology.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

PHASE THREE OF WRIGHT'S SHIFTING-BALANCE THEORY.

Evolution; international journal of organic evolution·2017
Same author

The absence of a primary sex factor on the X-chromosome of Drosophila.

The American naturalist·2010
Same author

The Wilhemine E. Key 2003 invitational lecture. Genetics: alive and well. The first hundred years as viewed through the pages of the journal of heredity.

The Journal of heredity·2004
Same author

Shannon's brief foray into genetics.

Genetics·2001
Same author

Two centuries of genetics: a view from halftime.

Annual review of genomics and human genetics·2001
Same author

Multidimensional epistasis and the disadvantage of sex.

Proceedings of the National Academy of Sciences of the United States of America·2001

Area of Science:

  • Human Genetics
  • Evolutionary Biology
  • Genomics

Background:

  • Estimating the human genomic deleterious mutation rate is crucial for understanding genetic health and evolution.
  • Previous methods have limitations in accurately quantifying the impact of new mutations.

Purpose of the Study:

  • To propose and validate a new method for measuring the human genomic deleterious mutation rate.
  • To estimate the total zygotic mutation rate and the fraction of the genome under negative selection.

Main Methods:

  • Comparing the evolutionary rates of neutral sequences (microN) with unique DNA sequences (microO).
  • Utilizing pseudogenes to estimate the neutral evolutionary rate.
  • Analyzing homologous sequences from Homo and related species to determine microO.

Related Experiment Videos

Main Results:

  • The method provides an estimate for the total zygotic mutation rate (UT).
  • The fraction of the genome under negative selection (fS) can be calculated.
  • A deleterious zygotic mutation rate (US) exceeding 1 is indicated if fS > 0.01.

Conclusions:

  • The proposed method offers a robust approach to quantify deleterious mutations in the human genome.
  • The findings suggest potentially significant implications for human genetic diversity and disease.
  • This research contributes to a deeper understanding of evolutionary processes shaping the human genome.