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: New genetic form of obesity and diabetes discovered

Related Stories

New study re-writes the rules of carbon analysis

46 minutes ago

A new study published today in Nature Climate Change has found analyses of carbon emissions may be misleading as they failed to include the impacts of policies such as trading schemes, emission caps or quo ...

Substrates change nanoparticle reactivity

1 hour ago

(Phys.org)—Nanoscale materials tend to behave differently than their bulk counterparts. While there are many theories as to why this happens, technological advances in scanning tunneling microscopy (STM) ...

New capability takes sensor fabrication to a new level

1 hour ago

Operators must continually monitor conditions in power plants to assure they are operating safely and efficiently. Researchers on the Sensors and Controls Team at DOE's National Energy Technology Laboratory ...

Recommended for you

Genes leave some kids prone to weakness in wrist bones

Jun 29, 2015

Pediatric researchers have discovered gene locations affecting bone strength in wrist bones, the most common site for fractures in children. Children who have those genetic variants may be at higher-than-average risk of wrist ...

Rare gene variant associated with middle ear infections

Jun 29, 2015

Many parents have heard the night-time cry of "my ear hurts." For some children, this might happen frequently beginning in infancy and even persist into adulthood. An international consortium led by those ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.