Double identities lie behind chromosome disorders

Jul 08, 2007

Chromosome disorders in sex cells cause infertility, miscarriage and irregular numbers of chromosomes (aneuploidy) in neonates. A new study from Karolinska Institutet published in the scientific journal Nature Genetics shows how chromosome disorders can arise when sex cells are formed.

Sex cells contain a control station for monitoring the mechanism that ensures that the correct numbers of chromosomes are distributed during cell division. Scientists have now shown that there is an alternative distribution mechanism in female sex cells that cause chromosome disorders. Aberrant chromosomes orientate themselves like normal chromosomes, and this ability to adopt double identities protects them from detection by the control centre.

“We believe that this new fundamental mechanism can help to explain why chromosome disorders are so common in female sex cells,” says Professor Christer Höög, leader of the study.

The research might eventually lead to new medical treatments able to reduce the risk of foetal damage.

Over 0.3 per cent of children are born with some kind of chromosome disorder. Most develop Downs Syndrome, or obtain the wrong number of sex chromosomes and develop Turner’s or Klinefelter’s syndrome. Turner’s syndrome only occurs in females and is caused when one of the two X chromosomes is missing. Girls with Turner’s have arrested development and if no treatment is given do not enter puberty. Klinefelter’s syndrome affects males, who receive an extra X chromosome. Symptoms include concentration difficulties, poor motor skills and infertility.

Publication: “Bi-orientation of achiasmatic chromosomes in mammalian MI oocytes contributes to aneuploidy”, Anna Kouznetsova, Lisa Lister, Magnus Nordenskjöld, Mary Herbert, Christer Höög, Nature Genetics, 8 July 2007

Source: Karolinska Institutet

Explore further: Diabetes discovery illuminates path to new drugs

add to favorites email to friend print save as pdf

Related Stories

Security contest techies say they hacked Tesla Model S

55 minutes ago

The good news: Tomorrow's cars are computers on wheels. The bad news: Tomorrow's cars are computers on wheels. Ma Jie, writing in Bloomberg News, reported this week that the Tesla Model S sedan was the target ...

Water problems lead to riots, deaths in South Africa

2 hours ago

Three babies who died from drinking tap water contaminated by sewage have become a tragic symbol of South Africa's struggle to cope with a flood of people into cities designed under apartheid to cater to ...

How Kindle Unlimited compares with Scribd, Oyster

15 hours ago

Amazon is the latest—and largest—company to offer unlimited e-books for a monthly fee. Here's how Kindle Unlimited, which Amazon announced Friday, compares with rivals Scribd and Oyster.

Recommended for you

Researchers find new mechanism for neurodegeneration

Jul 24, 2014

A research team led by Jackson Laboratory Professor and Howard Hughes Investigator Susan Ackerman, Ph.D., have pinpointed a surprising mechanism behind neurodegeneration in mice, one that involves a defect in a key component ...

Schizophrenia's genetic architecture revealed (w/ Video)

Jul 23, 2014

Queensland scientists are closer to effective treatments for schizophrenia after uncovering dozens of sites across the human genome that are strongly associated with a genetic predisposition to schizophrenia.

User comments : 0