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Estimation of genetic distances from human and mouse introns

Metadata Updated: September 7, 2025

Background Using genetic distances measured from exons, it has been observed that the mutation rate is not constant along mammalian chromosomes. Exons constitute only 1% of the human genome, however, and thus they cannot provide a complete picture of the mutational variation in the genome.

      Results
      I calculated genetic distances between 504 human introns and their orthologous mouse counterparts from a set of 63 pairs of human and mouse genes scattered through the genome using a recently developed method that can extract reliably aligned regions from the introns in an objective manner. I found a significant correlation between the genetic distance measured in the conserved intron segments and the synonymous and nonsynonymous distances measured in the corresponding coding exons, indicating that genes with fast-evolving exons tend to have fast-evolving introns, and vice versa.


      Conclusions
      These results indicate that introns, which extend over almost a quarter of the human genome, contain useful information for fully understanding the mutational dynamics of human and mouse genomes. This work also supports the idea that there is a mutational force that fluctuates nonrandomly along the genome, and shows for the first time that this force affects the introns and the synonymous and nonsynonymous positions in the exons of the genes simultaneously.

Access & Use Information

Public: This dataset is intended for public access and use. License: No license information was provided. If this work was prepared by an officer or employee of the United States government as part of that person's official duties it is considered a U.S. Government Work.

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Dates

Metadata Created Date July 24, 2025
Metadata Updated Date September 7, 2025

Metadata Source

Harvested from Healthdata.gov

Additional Metadata

Resource Type Dataset
Metadata Created Date July 24, 2025
Metadata Updated Date September 7, 2025
Publisher National Institutes of Health
Maintainer
NIH
Identifier https://healthdata.gov/api/views/ybvb-c8x6
Data First Published 2025-07-14
Data Last Modified 2025-09-06
Category NIH
Public Access Level public
Bureau Code 009:25
Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
Metadata Catalog ID https://healthdata.gov/data.json
Schema Version https://project-open-data.cio.gov/v1.1/schema
Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
Harvest Object Id 0cbe37c3-3684-49e8-8787-6058ec4caf5f
Harvest Source Id 651e43b2-321c-4e4c-b86a-835cfc342cb0
Harvest Source Title Healthdata.gov
Homepage URL https://healthdata.gov/d/ybvb-c8x6
Program Code 009:048
Source Datajson Identifier True
Source Hash 4dff2cf5f56e7b200c059cc79f74d0fc60463aa6f2b924274423f2cab3636c82
Source Schema Version 1.1

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