ScienceDaily
Your source for the latest research news
Follow Facebook Twitter LinkedIn Subscribe RSS Feeds Newsletters
New:
  • 3D Printing Metal-Plastic Composite Structures
  • 2,000-Year-Old Shipwreck: Complex Trade
  • Mammoth Problem With Extinction Timeline
  • Landslide Risk Remains Long After a Quake
  • Physicists Observe Wormhole Dynamics
  • New Method of Spinal Cord Tissue Repair
  • How Giant-Faced Owls Snag Voles Hidden in Snow
  • 'Unrecyclable' Plastic Can Now Be Recycled
  • Fossil Upends Views On Origin of Modern Birds
  • Mysteriously Bright Flash Pointing Toward Earth
advertisement
Follow all of ScienceDaily's latest research news and top science headlines!
Science News
from research organizations

1

2

'Achilles' Heel' In Y Chromosome Linked To Sex Disorders

Date:
September 7, 2009
Source:
Whitehead Institute for Biomedical Research
Summary:
The unique mechanism behind the evolutionary survival of the human Y chromosome may also be responsible for a range of sex disorders, from failed sperm production to sex reversal to Turner Syndrome.
Share:
FULL STORY

The unique mechanism behind the evolutionary survival of the human Y chromosome may also be responsible for a range of sex disorders, from failed sperm production to sex reversal to Turner Syndrome.

advertisement

Roughly six years ago, David Page's lab at Whitehead Institute for Biomedical Research reported the discovery of eight large areas of mirror-imaged genetic sequences, or palindromes, along the Y chromosome. Because the Y chromosome essentially has no partner with which to swap genes, a process that between ordinary chromosome pairs leads to genetic diversity and the exchange of good genes for damaged ones, it relies on its own palindromes to swap genes with itself. The Y, as it turns out, folds itself in the middle of palindromic regions, thereby pairing identical sequences to allow for potentially beneficial genetic exchange.

At the time, the finding provided explanation for why, despite much-heralded reports to the contrary, the Y chromosome is not doomed to extinction. Now, the Page lab has discovered that the Y's process of self-preservation can randomly go awry, with considerable clinical consequence.

"This is the sequel to the Y chromosome palindrome story," says Page, Whitehead Institute Director and a Howard Hughes Medical Institute investigator.

The latest chapter of the story, whose conclusion is published in the September 4 issue of Cell, began with the intriguing hypothesis that perhaps the Y's process of self-recombination can inadvertently turn the entire chromosome into a palindrome—literally, a mirror-image of itself. The result would be a so-called isodicentric Y chromosome (idicY), an abnormal structure with, as the name implies, two centromeres.

"We began to think seriously about the centromeres and the activity around them. Two centromeres render the chromosome susceptible to damage," says Julian Lange, first author of the Cell paper and a former graduate student in the Page lab. Because of the Y chromosome's well known roles in sex determination and male fertility, Lange began to speculate about the potential clinical impact of the transmission of an idicY during fertilization.

"Because the Y chromosome is not essential to an individual's survival, these isodicentric Ys can persist," says Lange, who, after completing this research at Whitehead, became a postdoctoral fellow at Memorial Sloan-Kettering Cancer Center. "They can be found in the population."

And Lange found them, in the DNA samples of 51 patients screened from a field of nearly 2400 individuals who had come under study over the course of many years because of failed sperm production, structurally abnormal Y chromosomes, or sex reversal. Through sophisticated genetic analysis, it became clear that idicYs were responsible for spermatogenic failure in many of the male patients.

However, 18 of the 51 patients were anatomically female—despite having two copies of the male-determining SRY gene on their idicY chromosomes. Lange and Page began to hypothesize that the feminization they had identified was related to the instability of the idicYs themselves. Suspecting that the level of instability of an idicY increases with the size of the chromosome, they looked for a connection and found something somewhat paradoxical: the larger the Y chromosome, the greater the likelihood of sex reversal.

"We had predicted this correlation, which relates to the overall distance between the centromeres," says Page. "But when we confirmed it with the patient data, we were blown away."

Page believes that this new model for the formation of idicY chromosomes, coupled with the size-instability correlation, suggests a causal link to Turner syndrome, a chromosomal abnormality in girls or women, characterized by the lack of one sex chromosome. Turner syndrome affects an estimated 1 in 2500 females. Page won't yet speculate as to what percentage of Turner syndrome could be caused by this palindrome-to-palindrome recombination, but he does think it's significant.

David Page's primary affiliation is with Whitehead Institute for Biomedical Research, where his laboratory is located and all his research is conducted. He is also a Howard Hughes Medical Institute investigator and a professor of biology at Massachusetts Institute of Technology.

make a difference: sponsored opportunity

Story Source:

Materials provided by Whitehead Institute for Biomedical Research. Original written by Matt Fearer. Note: Content may be edited for style and length.


Journal Reference:

  1. Julian Lange, Helen Skaletsky, Saskia K.M. van Daalen, Stephanie L. Embry, Cindy M. Korver, Laura G. Brown, Robert D. Oates, Sherman Silber, Sjoerd Repping, David C. Page. Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes. Cell, 2009; DOI: 10.1016/j.cell.2009.07.042

Cite This Page:

  • MLA
  • APA
  • Chicago
Whitehead Institute for Biomedical Research. "'Achilles' Heel' In Y Chromosome Linked To Sex Disorders." ScienceDaily. ScienceDaily, 7 September 2009. <www.sciencedaily.com/releases/2009/09/090903163715.htm>.
Whitehead Institute for Biomedical Research. (2009, September 7). 'Achilles' Heel' In Y Chromosome Linked To Sex Disorders. ScienceDaily. Retrieved December 1, 2022 from www.sciencedaily.com/releases/2009/09/090903163715.htm
Whitehead Institute for Biomedical Research. "'Achilles' Heel' In Y Chromosome Linked To Sex Disorders." ScienceDaily. www.sciencedaily.com/releases/2009/09/090903163715.htm (accessed December 1, 2022).

  • RELATED TOPICS
    • Health & Medicine
      • Down Syndrome
      • Epigenetics
      • Erectile Dysfunction
      • Genes
      • Fertility
      • Diseases and Conditions
      • Human Biology
      • Personalized Medicine
advertisement

  • RELATED TERMS
    • Turner syndrome
    • Sex education
    • Human genome
    • AIDS
    • Bisexuality
    • Estrogen
    • Meiosis
    • Rett syndrome
advertisement

  Print   Email   Share

advertisement

1

2

3

4

5
Most Popular
this week

HEALTH & MEDICINE
Put the Kettle On! How Black Tea (and Other Favorites) May Help Your Health Later in Life
Differences Between Brains of Primates Are Small but Significant, Study Shows
Human Evolution Wasn't Just the Sheet Music, but How It Was Played
MIND & BRAIN
525-Million-Year-Old Fossil Defies Textbook Explanation for Brain Evolution
Artificial Neural Networks Learn Better When They Spend Time Not Learning at All
Drinking During Pregnancy Changes Baby's Brain Structure
LIVING & WELL
Why Some People Are Mosquito Magnets
Wireless Earphones as Inexpensive Hearing Aids
Stop Counting Cups: There's an Ocean of Difference in Our Water-Drinking Needs
advertisement

Strange & Offbeat
 

HEALTH & MEDICINE
Green Means GO! Ultra-Violet Means STOP!
AI-Generated X-Ray Images Fooled Medical Experts and Improved Osteoarthritis Classification
Synthetic Biology Meets Medicine: 'Programmable Molecular Scissors' Could Help Fight COVID-19 Infection
MIND & BRAIN
525-Million-Year-Old Fossil Defies Textbook Explanation for Brain Evolution
Witchcraft Beliefs Are Widespread, Highly Variable Around the World, Study Finds
Artificial Neural Networks Learn Better When They Spend Time Not Learning at All
LIVING & WELL
AI Helps Researchers Design Microneedle Patches That Restore Hair in Balding Mice
Cats Distinguish Between Speech Directed at Them and Humans, Study Finds
Unlocking the Power of Our Emotional Memory
Explore More
from ScienceDaily

RELATED STORIES

Complete Chromosome 8 Sequence Reveals Novel Genes and Disease Risks
Apr. 8, 2021 — A full assembly of human chromosome 8 has now been completed. Its DNA content and arrangement are of interest in primate and human evolution, in several immune and developmental disorders, and in ...
Sex-Based Differences in the Development of Brain Hubs Involved in Memory and Emotion
Oct. 2, 2019 — Researchers have uncovered sex-based differences in the development of the hippocampus and amygdala. These brain areas have been implicated in the biology of several mental disorders that impact ...
Stem Cell Researchers Reactivate 'Back-Up Genes' in the Lab
Sep. 12, 2019 — Scientists have unraveled parts of a mechanism that may one day help to treat Rett syndrome and other genetic disorders linked to the X ...
The Lypla1 Gene Impacts Obesity in a Sex-Specific Manner
Feb. 15, 2019 — Susceptibility to obesity, insulin resistance and other cardio-metabolic traits may also be dependent on a person's sex. An international research team studied sex differences and sex-specific ...
advertisement


SD
  • SD
    • Home Page
    • Top Science News
    • Latest News
  • Home
    • Home Page
    • Top Science News
    • Latest News
  • Health
    • View all the latest top news in the health sciences,
      or browse the topics below:
      Health & Medicine
      • Allergy
      • Alternative Medicine
      • Birth Control
      • Cancer
      • Diabetes
      • Diseases
      • Heart Disease
      • HIV and AIDS
      • Obesity
      • Stem Cells
      • ... more topics
      Mind & Brain
      • ADD and ADHD
      • Addiction
      • Alzheimer's
      • Autism
      • Depression
      • Headaches
      • Intelligence
      • Psychology
      • Relationships
      • Schizophrenia
      • ... more topics
      Living Well
      • Parenting
      • Pregnancy
      • Sexual Health
      • Skin Care
      • Men's Health
      • Women's Health
      • Nutrition
      • Diet and Weight Loss
      • Fitness
      • Healthy Aging
      • ... more topics
  • Tech
    • View all the latest top news in the physical sciences & technology,
      or browse the topics below:
      Matter & Energy
      • Aviation
      • Chemistry
      • Electronics
      • Fossil Fuels
      • Nanotechnology
      • Physics
      • Quantum Physics
      • Solar Energy
      • Technology
      • Wind Energy
      • ... more topics
      Space & Time
      • Astronomy
      • Black Holes
      • Dark Matter
      • Extrasolar Planets
      • Mars
      • Moon
      • Solar System
      • Space Telescopes
      • Stars
      • Sun
      • ... more topics
      Computers & Math
      • Artificial Intelligence
      • Communications
      • Computer Science
      • Hacking
      • Mathematics
      • Quantum Computers
      • Robotics
      • Software
      • Video Games
      • Virtual Reality
      • ... more topics
  • Enviro
    • View all the latest top news in the environmental sciences,
      or browse the topics below:
      Plants & Animals
      • Agriculture and Food
      • Animals
      • Biology
      • Biotechnology
      • Endangered Animals
      • Extinction
      • Genetically Modified
      • Microbes and More
      • New Species
      • Zoology
      • ... more topics
      Earth & Climate
      • Climate
      • Earthquakes
      • Environment
      • Geography
      • Geology
      • Global Warming
      • Hurricanes
      • Ozone Holes
      • Pollution
      • Weather
      • ... more topics
      Fossils & Ruins
      • Ancient Civilizations
      • Anthropology
      • Archaeology
      • Dinosaurs
      • Early Humans
      • Early Mammals
      • Evolution
      • Lost Treasures
      • Origin of Life
      • Paleontology
      • ... more topics
  • Society
    • View all the latest top news in the social sciences & education,
      or browse the topics below:
      Science & Society
      • Arts & Culture
      • Consumerism
      • Economics
      • Political Science
      • Privacy Issues
      • Public Health
      • Racial Disparity
      • Religion
      • Sports
      • World Development
      • ... more topics
      Business & Industry
      • Biotechnology & Bioengineering
      • Computers & Internet
      • Energy & Resources
      • Engineering
      • Medical Technology
      • Pharmaceuticals
      • Transportation
      • ... more topics
      Education & Learning
      • Animal Learning & Intelligence
      • Creativity
      • Educational Psychology
      • Educational Technology
      • Infant & Preschool Learning
      • Learning Disorders
      • STEM Education
      • ... more topics
  • Quirky
    • Top News
    • Human Quirks
    • Odd Creatures
    • Bizarre Things
    • Weird World
Free Subscriptions

Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

  • Email Newsletters
  • RSS Feeds
Follow Us

Keep up to date with the latest news from ScienceDaily via social networks:

  • Facebook
  • Twitter
  • LinkedIn
Have Feedback?

Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?

  • Leave Feedback
  • Contact Us
About This Site  |  Staff  |  Reviews  |  Contribute  |  Advertise  |  Privacy Policy  |  Editorial Policy  |  Terms of Use
Copyright 1995-2022 ScienceDaily or by other parties, where indicated. All rights controlled by their respective owners.
Content on this website is for information only. It is not intended to provide medical or other professional advice.
Views expressed here do not necessarily reflect those of ScienceDaily, its staff, its contributors, or its partners.
Financial support for ScienceDaily comes from advertisements and referral programs, where indicated.
— CCPA: Do Not Sell My Information — GDPR: Privacy Settings —