Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis.

08:00 EDT 8th October 2018 | BioPortfolio

Summary of "Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis."

The human X and Y chromosomes are heteromorphic but share a region of homology at the tips of their short arms, pseudoautosomal region 1 (PAR1), that supports obligate crossover in male meiosis. Although the boundary between pseudoautosomal and sex-specific DNA has traditionally been regarded as conserved among primates, it was recently discovered that the boundary position varies among human males, due to a translocation of ~110 kb from the X to the Y chromosome that creates an extended PAR1 (ePAR). This event has occurred at least twice in human evolution. So far, only limited evidence has been presented to suggest this extension is recombinationally active. Here, we sought direct proof by examining thousands of gametes from each of two ePAR-carrying men, for two subregions chosen on the basis of previously published male X-chromosomal meiotic double-strand break (DSB) maps. Crossover activity comparable to that seen at autosomal hotspots was observed between the X and the ePAR borne on the Y chromosome both at a distal and a proximal site within the 110-kb extension. Other hallmarks of classic recombination hotspots included evidence of transmission distortion and GC-biased gene conversion. We observed good correspondence between the male DSB clusters and historical recombination activity of this region in the X chromosomes of females, as ascertained from linkage disequilibrium analysis; this suggests that this region is similarly primed for crossover in both male and female germlines, although sex-specific differences may also exist. Extensive resequencing and inference of ePAR haplotypes, placed in the framework of the Y phylogeny as ascertained by both Y microsatellites and single nucleotide polymorphisms, allowed us to estimate a minimum rate of crossover over the entire ePAR region of 6-fold greater than genome average, comparable with pedigree estimates of PAR1 activity generally. We conclude ePAR very likely contributes to the critical crossover function of PAR1.


Journal Details

This article was published in the following journal.

Name: PLoS genetics
ISSN: 1553-7404
Pages: e1007680


DeepDyve research library

PubMed Articles [17127 Associated PubMed Articles listed on BioPortfolio]

PRDM9, a driver of the genetic map.

During meiosis, maternal and paternal chromosomes undergo exchanges by homologous recombination. This is essential for fertility and contributes to genome evolution. In many eukaryotes, sites of meiot...

How the ligand-induced reorganization of protein internal energies is coupled to conformational events.

Here, we introduce a novel computational method to identify the protein substructures most likely to support the functionally-oriented structural deformations that occur upon ligand-binding. To this a...

Hop-family Helicobacter outer membrane adhesins form a novel class of Type 5-like secretion proteins with an interrupted β-barrel domain.

The human stomach pathogen Helicobacter pylori attaches to healthy and inflamed gastric tissue through members of a paralogous family of "Helicobacter outer membrane proteins" (Hops), including adhesi...

Hotspots of Transmission Driving the Local Hiv Epidemic in the Cologne-Bonn Region, Germany.

Geographical allocation of interventions focusing on hotspots of HIV transmission has the potential to improve efficiency. We used phylogeographic analyses to identify hotspots of the HIV transmission...

Chemical shift assignments of the catalytic and ATP-binding domain of HK853 from Thermotoga maritime.

HK853 is a transmembrane protein from Thermotoga maritime, which belongs to HK853/RR468 two-component signal transduction system (TCS) and acts as a sensor histidine kinase. HK853 is mainly composed o...

Clinical Trials [4542 Associated Clinical Trials listed on BioPortfolio]

Observational Study of Nevirapine Extended Release in Human Immunodeficiency Virus (HIV) Patients in Daily Clinical Practice

This Post Marketing Surveillance study will be performed as an open-label, prospective, non-interventional, uncontrolled study in Human immunodeficit Virus-1 (HIV-1) infected patients. Dat...

Ocular Imaging With Spectral Domain Optical Coherence Tomography

The purpose of this study is to analyze macular retinal thickness and macular volume using the spectral domain - optical coherence tomography (SD-OCT) in normal eyes and in eyes with vario...

Spirometric Predicted Values in Bolivia

There is no local predicted values for spirometry available in Bolivia. The aim of the present study is to establish moderne predicted values for healthy non-smokers recruited in a major c...

Pilot Study To Evaluate Optical Frequency Domain Imaging For Diagnosis Of Central Airway Disease

To evaluate the potential of a new imaging device, termed Optical Frequency Domain Imaging (OFDI), in the early diagnosing of pulmonary malignancies in the central airways.

EMA for Tobacco Control Policy Research

The study aims to (1) evaluate the effectiveness of the recent renewal of tobacco health warnings (HWs) on noticing and anti-smoking responses, and (2) assess the effect of exposure to poi...

Medical and Biotech [MESH] Definitions

Homologous chromosomal regions at either end of the X CHROMOSOME or Y CHROMOSOME. These two regions pair regularly at male MEIOSIS and undergo RECOMBINATION. Pseudoautosomal region 1 (PAR1) is located at the tip of the short 'p' arms (Xp22 and Yp11) and Pseudoautosomal region 2 (PAR2) is located at the tip of the long 'q' arms (Xq28 and Yq12).

A family of transcription factors characterized by the presence of a bipartite DNA-binding domain known as the POU domain. The POU domain contains two subdomains, a POU-specific domain and a POU-homeodomain. The POU domain was originally identified as a region of approximately 150 amino acids shared between the Pit-1, Oct-1, Oct-2, and Unc-86 transcription factors.

A fusion protein immunoconjugate of the extracellular domain of CTLA4 and the Fc domain of human IgG1. It functions as a T-cell co-stimulation blocker that inhibits TNF-ALPHA and prevents the activation of T-LYMPHOCYTES. It is used in the treatment of RHEUMATOID ARTHRITIS.

A conserved protein interaction domain of the death domain superfamily that is structurally similar to the DEATH EFFECTOR DOMAIN and CASPASE RECRUITMENT DOMAIN. Death domains bind each other to form oligomers and occur on DEATH DOMAIN RECEPTORS, where they are required for APOPTOSIS signaling and non-apoptotic functions.

Hydrophilic contact lenses worn for an extended period or permanently.

Quick Search


DeepDyve research library

Relevant Topic

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Searches Linking to this Article