Abstract
The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes. To date, 24 genes have been assigned to the PAR1 region. Half of these have a known function. In contrast, so far only 4 genes have been discovered in the PAR2 region. Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1. SHOX haploinsufficiency contributes to certain features in Turner syndrome as well as the characteristics of Leri-Weill dyschondrosteosis. Only two of the human PAR1 genes have mouse homologues. These do not, however, reside in the mouse PAR1 region but are autosomal. The PAR regions seem to be relics of differential additions, losses, rearrangements and degradation of the X and Y chromosome in different mammalian lineages. Marsupials have three homologues of human PAR1 genes in their autosomes, although, in contrast to mouse, do not have a PAR region at all. The disappearance of PAR from other species seems likely and this region will only be rescued by the addition of genes to both X and Y, as has occurred already in lemmings. The present review summarizes the current understanding of the evolution of PAR and provides up-to-date information about individual genes residing in this region.
Keywords: Pseudoautosomal region, PAR, sex chromosomes, XE7, SHOX
Current Genomics
Title: The Human Pseudoautosomal Region (PAR): Origin, Function and Future
Volume: 8 Issue: 2
Author(s): A. Helena Mangs and Brian J. Morris
Affiliation:
Keywords: Pseudoautosomal region, PAR, sex chromosomes, XE7, SHOX
Abstract: The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes. To date, 24 genes have been assigned to the PAR1 region. Half of these have a known function. In contrast, so far only 4 genes have been discovered in the PAR2 region. Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1. SHOX haploinsufficiency contributes to certain features in Turner syndrome as well as the characteristics of Leri-Weill dyschondrosteosis. Only two of the human PAR1 genes have mouse homologues. These do not, however, reside in the mouse PAR1 region but are autosomal. The PAR regions seem to be relics of differential additions, losses, rearrangements and degradation of the X and Y chromosome in different mammalian lineages. Marsupials have three homologues of human PAR1 genes in their autosomes, although, in contrast to mouse, do not have a PAR region at all. The disappearance of PAR from other species seems likely and this region will only be rescued by the addition of genes to both X and Y, as has occurred already in lemmings. The present review summarizes the current understanding of the evolution of PAR and provides up-to-date information about individual genes residing in this region.
Export Options
About this article
Cite this article as:
Helena Mangs A. and Morris J. Brian, The Human Pseudoautosomal Region (PAR): Origin, Function and Future, Current Genomics 2007; 8 (2) . https://dx.doi.org/10.2174/138920207780368141
DOI https://dx.doi.org/10.2174/138920207780368141 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Therapeutic Potential of Peptide Toxins that Target Ion Channels
Inflammation & Allergy - Drug Targets (Discontinued) Incretins Yesterday, Pleiotropic Gastrointestinal Hormones Today:Glucagon-Like Peptide-1 (GLP-1) and Glucose-ependent Insulinotropic Polypeptide (GIP)
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery (Discontinued) Blood Pressure and Vascular Alterations with Growth in Childhood
Current Pharmaceutical Design The Genetics of Small-Vessel Disease
Current Medicinal Chemistry Sirtuin Modulators: Mechanisms and Potential Clinical Implications
Current Medicinal Chemistry Intrinsic Disorder in Male Sex Determination: Disorderedness of Proteins from the Sry Transcriptional Network
Current Protein & Peptide Science Insulin-Degrading Enzyme: Structure-Function Relationship and its Possible Roles in Health and Disease
Current Pharmaceutical Design AMP-Activated Protein Kinase: Structure and Regulation
Current Protein & Peptide Science Chemokine Receptors as Anti-Retroviral Targets
Current Drug Targets The Epigenetic Origin of Aneuploidy
Current Genomics Cognitive - Behavioral Therapy in Central Sensitivity Syndromes
Current Rheumatology Reviews Enteral and Parenteral Nutrition Therapy for Crohns Disease
Current Pharmaceutical Design Mitochondrial-Associated Metabolic Changes and Neurodegeneration in Huntingtons Disease - from Clinical Features to the Bench
Current Drug Targets Glucocorticoid Excess Induces Accumulation of Cardiac Glycogen and Triglyceride: Suggested Role for AMPK
Current Pharmaceutical Design Contemporary Risk Assessment and Cardiovascular Outcomes in Peripheral Arterial Disease
Cardiovascular & Hematological Disorders-Drug Targets The Medical Implications of Gastrointestinal Vagal Afferent Pathways in Nausea and Vomiting
Current Pharmaceutical Design Advances in HIV-1 Entry Inhibitors: Strategies to Interfere with Receptor and CoReceptor Engagement
Current Pharmaceutical Design Eosinophilic Gastrointestinal Diseases in Children: A Practical Review
Current Pediatric Reviews Neuroimaging of the Serotonin Transporter: Possibilities and Pitfalls
Current Psychiatry Reviews Treatment with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibitors to Reduce Cardiovascular Inflammation and Outcomes
Current Medicinal Chemistry