Featured Research

from universities, journals, and other organizations

Test Reveals Genetic Defect That Causes Infertility In Pigs

Date:
February 13, 2009
Source:
MTT Agrifood Research Finland
Summary:
In the late 1990s the Finnish Yorkshire pig population was threatened by a genetic defect which spread at an alarming rate and led to infertility. The defective gene has now been mapped. Sequence analysis of the candidate gene KPL2 revealed the presence of an inserted retrotransposon, a DNA sequence which moves around independently in the host genome.

In the late 1990s the Finnish Yorkshire pig population was threatened by a genetic defect which spread at an alarming rate and led to infertility. The defective KPL2 gene in porcine chromosome 16 caused pig spermatozoa to be short-tailed and immotile. The recessive genetic defect did not cause any other symptoms in the pigs.

Related Articles


Research Scientist Anu Sironen of MTT Agrifood Research Finland mapped the defective gene in her doctoral research. Sequence analysis of the candidate gene KPL2 revealed the presence of an inserted retrotransposon, a DNA sequence which moves around independently in the host genome. These transposable elements are found in all plants and animals.

Sironen also developed an accurate DNA test which can be used to identify animals carrying the defective gene with 100% certainty. The method, based on PCR technology, multiplies part of the KPL2 gene and detects the retrotransposon if it is present. The test has been used as a tool in Finnish pig breeding since 2006.

Human genome contains the same gene

Sironen’s research also sheds light on the investigation of infertility in human males. KPL2 is, evolutively, an old gene that is present in all mammals and is similar in many species. The Line-1 retrotransposon which had inserted itself into this gene is present in the genome of all mammals, including humans.

After Sironen had developed the genetic test for pigs, she continued researching the genetic defect mechanism in mice.

“The KPL2 gene appears to affect the formation of cilia, which are hair-like organelles projecting from cells. They are present in spermatozoa, but also in many other tissues, including the lungs and bronchial tubes. The cilia are able to sense the surrounding conditions and transmit signals to the cells,” she explains.

Besides infertility, genetic defects in the cilia may be linked to blood pressure regulation, tumor development, kidney diseases and obesity. A severe cilial defect leads to developmental failure at the embryotic stage.

Sironen points out that it has not yet been demonstrated whether a defective KPL2 gene causes infertility or other symptoms in humans. However, findings on its participation in the cilial development indicate this might be the case.

Gene defect may have other implications

Sironen observed that the insertion of the Line-1 retrotransposon into the KPL2 gene affects the gene expression, leaving the coded protein abnormally short.

The long form of KPL2 is expressed predominantly in the porcine testicular tissue, which explains the tissue-specificity of the defect. Sironen would like to investigate the functions of the gene in a broader context, to find out which tissues it operates in and what its role is in the formation of cilia elsewhere in the body.

Sironen is also interested to find out whether the insertion of Line-1 retrotransposon in the KPL2 gene has any positive impacts on the production traits of pigs. She points out that the retrotransposon can have multiple impacts in the genome: it can cause other genes to shift, or have an impact on the manifestation of neighbouring genes.

“The increase of the porcine short-tail sperm defect was alarmingly fast in the late 1990s. This implies that the genetic defect may have been associated with some positive genetic effect on the pigs’ production traits, which would explain why animals carrying the defect have been favoured in breeding,” says Sironen.

The doctoral thesis of Anu Sironen, M.Sc., entitled “Molecular genetics of the immotile short tail sperm defect”, will be publicly reviewed at the University of Turku on 20 February 2009.

The opponent will be Professor Howard Jacobs of the University of Tampere and the custos will be Professor Jorma Toppari of the University of Turku.


Story Source:

The above story is based on materials provided by MTT Agrifood Research Finland. Note: Materials may be edited for content and length.


Cite This Page:

MTT Agrifood Research Finland. "Test Reveals Genetic Defect That Causes Infertility In Pigs." ScienceDaily. ScienceDaily, 13 February 2009. <www.sciencedaily.com/releases/2009/02/090209075824.htm>.
MTT Agrifood Research Finland. (2009, February 13). Test Reveals Genetic Defect That Causes Infertility In Pigs. ScienceDaily. Retrieved December 22, 2014 from www.sciencedaily.com/releases/2009/02/090209075824.htm
MTT Agrifood Research Finland. "Test Reveals Genetic Defect That Causes Infertility In Pigs." ScienceDaily. www.sciencedaily.com/releases/2009/02/090209075824.htm (accessed December 22, 2014).

Share This


More From ScienceDaily



More Plants & Animals News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Earthworms Provide Cancer-Fighting Bacteria

Earthworms Provide Cancer-Fighting Bacteria

Reuters - Innovations Video Online (Dec. 21, 2014) Polish scientists isolate bacteria from earthworm intestines which they say may be used in antibiotics and cancer treatments. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Reuters - Innovations Video Online (Dec. 21, 2014) A team of scientists led by Danish chemist Jorn Christensen says they have isolated two chemical compounds within an existing antipsychotic medication that could be used to help a range of failing antibiotics work against killer bacterial infections, such as Tuberculosis. Jim Drury went to meet him. Video provided by Reuters
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
Monarch Butterflies Descend Upon Mexican Forest During Annual Migration

Monarch Butterflies Descend Upon Mexican Forest During Annual Migration

Reuters - Light News Video Online (Dec. 19, 2014) Millions of monarch butterflies begin to descend onto Mexico as part of their annual migration south. Rough Cut (no reporter narration) Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Plants & Animals

Earth & Climate

Fossils & Ruins

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

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:

Get Social & Mobile


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

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins