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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Chromosome Structure02:40

Chromosome Structure

A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

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. Today,...
Synteny and Evolution02:31

Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...

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Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

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Published on: April 10, 2018

The Human Pseudoautosomal Region (PAR): Origin, Function and Future.

A Helena Mangs1, Brian J Morris

  • 1Basic & Clinical Genomics Laboratory, School of Medical Sciences and Bosch Institute, The University of Sydney, NSW 2006, Australia.

Current Genomics
|July 29, 2008
PubMed
Summary
This summary is machine-generated.

Pseudoautosomal regions (PAR1 and PAR2) on human sex chromosomes facilitate gene recombination. This review details PAR gene evolution, function, and implications in genetic disorders like Turner syndrome.

Keywords:
PARPseudoautosomal regionSHOXXE7sex chromosomes

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Last Updated: Jul 3, 2026

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Area of Science:

  • Genetics
  • Evolutionary Biology
  • Human Chromosomes

Background:

  • The pseudoautosomal regions (PAR1 and PAR2) of human X and Y chromosomes undergo meiotic recombination, influencing gene inheritance patterns.
  • PAR1 and PAR2 are located at the tips of the short and long arms, respectively, containing 24 and 4 identified genes, respectively.
  • Genes within PAR1, such as SHOX, are implicated in genetic disorders like Turner syndrome and Leri-Weill dyschondrosteosis.

Purpose of the Study:

  • To review the current understanding of pseudoautosomal region evolution.
  • To provide updated information on genes within the PAR regions.
  • To explore the implications of PAR structure and gene content in mammalian evolution.

Main Methods:

  • Literature review of genetic and evolutionary studies on pseudoautosomal regions.
  • Analysis of gene content and homology across different mammalian species.
  • Examination of the functional significance of PAR genes and their role in genetic disorders.

Main Results:

  • PAR1 and PAR2 exhibit distinct gene numbers and functions, with PAR1 genes like SHOX having known roles in human development and disease.
  • Comparative genomics reveals that PAR regions are dynamic, with varying gene content and homology across species, and some species lack PARs entirely.
  • Mouse homologues of human PAR1 genes are located on autosomes, not in the mouse PAR1 region, highlighting evolutionary divergence.

Conclusions:

  • Pseudoautosomal regions are evolutionary mosaics, shaped by chromosomal rearrangements and gene dynamics across mammalian lineages.
  • The study of PAR genes provides insights into sex chromosome evolution and the genetic basis of specific developmental disorders.
  • The presence and function of PAR genes are critical for proper meiosis and fertility, with their loss or alteration having significant biological consequences.