Navigation Links
Housecat-sized Siberian tiger cubs get collared

The International HapMap Project was initiated with the primary goal of facilitating medical studies and understanding the genomic basis for human diseases. To coordinate with the journal Nature's publication describing the HapMap, the journal Genome Research is announcing a special issue entitled "Human Genome Variation," which is entirely devoted to studies using these data to provide insight into human biology and disease.

Predicting pregnancy success

Successful human reproduction and the maintenance of early pregnancy are dependent on a cluster of genes on chromosome 19 called the Luteinizing Hormone/Chorionic Gonadotropin Beta (LHB/CGB). During primate evolution, this cluster actively underwent numerous gene duplications and structural rearrangements, allowing the associated genes to acquire new biological functions.

In this month's issue of Genome Research, Dr. Maris Laan and her colleagues report their analysis of the LHB/CGB cluster in three human populations: European Estonians, African Mandenka, and Chinese Han. They demonstrate how gene conversion was critical for shaping the genetic diversity of this region in humans.

"This study paves the way for examining an individual's potential reproductive success based on sequence variants of the LHB/CGB genes," explains Laan. "We may be able to determine whether an individual is particularly susceptible to spontaneous abortions or reduced gonadal function, for example."

Contact:
Maris Laan, Ph.D.
Research Professor, University of Tartu, Estonia
Phone: +372-53495258
E-mail: maris@ebc.ee

X-ing out hereditary prostate cancer

According to the Prostate Cancer Foundation, one of every six American men develops prostate cancer, making it the most common form of non-skin cancer. Growing evidence suggests that there is a signific ant hereditary component to the disease, and one of the most strongly associated genomic regions lies on the X chromosome.

This X chromosomal region spans a cluster of five SPANX genes that are predominantly expressed in the testis and in certain tumors. In this month's issue of Genome Research, Dr. Vladimir Larionov and his colleagues examined the genetic architecture of the SPANX cluster and showed how the region exhibited dynamic deletions, duplications, and gene conversion events, some of which may have resulted in the development of mutations involved in prostate cancer susceptibility.

"Because of the strong similarity among genes in this region, we had to develop a new technique for our mutational analysis, which we call TAR cloning," explains Larionov. "Using this method, we isolated the SPANX region from 200 individuals by recombination in yeast."

Based on their results, the authors speculate that predisposition to prostate cancer ?at least in some individuals ?is determined by the specific architecture of the SPANX gene cluster on the X chromosome. "We're hoping to clarify which specific types of genomic rearrangements lead to prostate cancer susceptibility," says Larinov, "so that we can someday identify therapeutic targets for this disease."

Contact:
Vladimir Larionov, Ph.D.
Head, Genome Structure and Function Section, National Cancer Institute
Phone: 301-496-7941
E-mail: larionov@mail.nih.gov

Genetic traffic in DiGeorge syndrome

One of the most common human genomic disorders, DiGeorge syndrome, occurs in one of every 2,000-4,000 live births and involves a deletion on chromosome 22. The deletion is mediated by rare repetitive sequences that flank genes crucial for proper development of the heart, face, and upper thorax.

Dr. Bernice Morrow and her colleagues describe in this month' s issue of Genome Research how they examined these flanking repetitive sequences for patterns of polymorphisms. "Our results show that there are intervals with more frequent traffic of genetic material ?regions with higher rates of gene conversion or recombination ?that are indicative of genomic instability," explains Morrow.

"With this knowledge in hand, we hope to screen our patients and identify the genomic mechanism underlying this important disease," says Morrow.

Contact:
Bernice Morrow, Ph.D.
Professor, Albert Einstein College of Medicine
Phone: 718-430-4274
E-mail: morrow@aecom.yu.edu

Looking for genes in all the right places

Geneticists rely on variation, or alterations in DNA sequence, for disease-association studies. Hereditary traits such as heart disease, arthritis, and Alzheimer's can be assigned to specific genomic regions based on their association with DNA markers.

The success of disease-association studies is dependent upon several characteristics of the DNA markers, including allelic frequency and genomic coverage. In some cases, a particular variant at one locus is perfectly associated with a specific variant at another locus; in other words, the two markers are "genetically indistinguishable."

Dr. Lon Cardon and his colleagues describe in this month's issue of Genome Research how these "genetically indistinguishable" polymorphisms can complicate the identification of disease-related genes. "Although they should pose few difficulties when they are located close together on the same chromosome, they often occur on different chromosomes, where it is quite another story," explains Cardon. When this is the case, true disease genes cannot be distinguished from their anonymous genetic 'twins.'

"Research in human genetic variation is rapidly moving towards realizing our aims of improving diagnosis of comm on diseases such as diabetes and heart disease," says Cardon, "but the genome is tricky; it won't reveal its secrets easily. The real disease-causing culprits can have many silent partners. We need to know the relationships of all these partners to focus on real disease mutations and to minimize attention on the innocent gene variants that colour the humanity of life."

Contact:
Lon R. Cardon, Ph.D.
Professor of Bioinformatics, University of Oxford
Phone: +44-01865-287591
E-mail: lon.cardon@well.ox.ac.uk


'"/>

Source:Wildlife Conservation Society


Related biology news :

1. Siberian tigers hang tough
2. Siberian lakes burp time-bomb greenhouse gas
3. New tiger report release: Tiger habitat down from just a decade ago
4. Alarming decline in Nepals rhinos and tigers in former Maoist stronghold
5. Wild tigers need cat food
6. Asias odd-ball antelope gets collared
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:1/18/2017)...  In vitro diagnostic (IVD) companies were very active ... and Kalorama Information expects that trend to continue – ... Generally, uncertainty in reimbursement and healthcare reform in ... the acquisitions landscape. Instead of looking to buy technology, ... outside of their home country and also to increase ...
(Date:1/12/2017)... -- Trovagene, Inc. (NASDAQ: TROV ), a developer ... it has signed agreements with seven strategic partners across ... Middle East for commercialization of the Trovera™ ... of international distribution agreements for Trovagene,s CLIA based liquid ... The initial partners will introduce Trovagene,s liquid biopsy tests ...
(Date:1/11/2017)... , Jan. 11, 2017 Intoxalock, a ... with the release of its patent-pending calibration device. With ... reliably perform calibrations, securely upload data logs and process ... the customer. "Fighting drunk driving through the ... the public at large, but also for the customer ...
Breaking Biology News(10 mins):
(Date:1/18/2017)... , Jan. 18, 2017   Boston Biomedical ... compounds designed to target cancer stemness pathways, will feature ... compound, napabucasin, at the 2017 ASCO Gastrointestinal Cancers Symposium, ... . Napabucasin is an orally-administered ... targeting STAT3. i Cancer stem cells (CSCs) possess ...
(Date:1/18/2017)... ... January 18, 2017 , ... Whitehouse Labs has ... Albany Molecular Research, Inc. (AMRI), the scientific staff dedicated to Extractables / Leachables ... for further growth in 2017. Extractable & Leachable evaluations have become increasingly more ...
(Date:1/18/2017)... ... 2017 , ... BidMed, LLC, announced it will hold a 1-day ... equipment from two different leading institutes. This highly specialized laboratory equipment is coming directly ... This 1-day online auction will take place on BidMed’s website http://www.bidmed.com ...
(Date:1/18/2017)... Texas , Jan. 18, 2017  Caris ... and the Lustgarten Foundation, the largest private funder ... a clinical trial evaluating the impact of immunotherapy ... providing clinical trial enrollment services to identify potential ... facilitate communication between treating physicians and study investigators. ...
Breaking Biology Technology: