Polymorphic pseudogenes in the human genome - a comprehensive assessment.

ABSTRACT:

Background

Over the past decade, variations of the coding portion of the human genome have become increasingly evident. In this study, we focus on polymorphic pseudogenes, a unique and relatively unexplored type of pseudogene whose inactivating mutations have not yet been fixed in the human genome at the global population level. Thus, polymorphic pseudogenes are characterized by the presence in the population of both coding alleles and non-coding alleles originating from Loss-of-Function (LoF) mutations. These alleles can be found both in heterozygosity and in homozygosity in different human populations and thus represent pseudogenes that have not yet been fixed in the population.

Results

A methodical cross-population analysis of 232 polymorphic pseudogenes, including 35 new

SUBMITTER: Lopes-Marques M 

PROVIDER: S-EPMC11576641 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature