Navigation Links
Mutations from Venus, mutations from Mars
Date:7/28/2014

Some 15% of adults suffer from fertility problems, many of these due to genetic factors. This is something of a paradox: We might expect such genes, which reduce an individual's ability to reproduce, to disappear from the population. Research at the Weizmann Institute of Science that recently appeared in Nature Communications may now have solved this riddle. Not only can it explain the high rates of male fertility problems, it may open new avenues in understanding the causes of genetic diseases and their treatment.

Various theories explain the survival of harmful mutations: A gene that today causes obesity, for example may have once granted an evolutionary advantage; or a disease-causing gene may persist because it is passed on in a small, relatively isolated population.

Dr. Moran Gershoni, a postdoctoral fellow in the group of Prof. Shmuel Pietrokovski of the Molecular Genetics Department, decided to investigate another approach one based on differences between males and females. Although males and females carry nearly identical sets of genes, many are activated differently in each sex. So natural selection works differently on the same genes in males and females.

Take, for example, a mutation that impairs breast milk. It will undergo negative selection only in women. Conversely, a hypothetical gene variant that benefits women but is harmful to men could spread in a population, as it undergoes positive selection in half that population. Gershoni and Pietrokovski created a mathematical model for harmful mutations that affect only half the population; their model showed that these mutations should occur twice as often as those that affect males and females equally.

To test the model, the researchers searched in a computational analysis of the activities of all the human genes that appear in public databases, identifying 95 genes that are exclusively active in the testes. Most of these genes are vital for procreation; and damage to them leads, in many cases, to male sterility.

The researchers then looked at these 95 genes in people whose genomes had been made available through the 1000 Genomes Project, which gave them a broad cross-section of human populations. Their analysis revealed that genes that are active only in the testes have double the harmful mutation rate of those that are active in both sexes right in line with the mathematical model. Pietrokovski and his team are now conducting follow-up experiments to see whether the mutations they identified do, indeed, play a role in these problems and whether the "sex-difference" approach can explain their survival.

This new understanding of the persistence of genetic mutations could yield insights into other diseases with genetic components, especially those that affect the sexes asymmetrically, including schizophrenia and Parkinson's, which are more likely to affect men, and depression and autoimmune diseases, which affect more women. And, say Gershoni and Pietrokovski, these findings highlight the need to fit even common medical treatments to the gender of the patient.


'/>"/>

Contact: Yivsam Azgad
news@weizmann.ac.il
972-893-43856
Weizmann Institute of Science
Source:Eurekalert

Related biology news :

1. No extra mutations in modified stem cells, study finds
2. Severe scoliosis linked to rare mutations
3. Virus-fighting genes linked to mutations in cancer
4. Key genetic mutations could be new hope for adrenocortical tumor patients
5. Genetic mutations warn of skin cancer risk
6. Study pinpoints protective mutations for type 2 diabetes
7. New method developed for ranking disease-causal mutations within whole genome sequences
8. New hope: Researchers discover genetic mutations that cause rare and deadly lung disease
9. Deletion of any single gene provokes mutations elsewhere in the genome
10. Novel mutations define 2 types of bone tumor
11. Mutations in novel tumor suppressor gene associated with early onset breast cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... 2017 KEY FINDINGS The global ... a CAGR of 25.76% during the forecast period of ... factor for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is ... geography. The stem cell market of the product is ...
(Date:3/30/2017)... , March 30, 2017 The research ... system for three-dimensional (3D) fingerprint identification by adopting ground breaking 3D ... a new realm of speed and accuracy for use in identification, ... an affordable cost. ... ...
(Date:3/27/2017)... 2017  Catholic Health Services (CHS) has been ... (HIMSS) Analytics for achieving Stage 6 on the ... In addition, CHS previously earned a place in ... electronic medical record (EMR). "HIMSS Analytics ... EMR usage in an outpatient setting.  This recognition ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... its endogenous context, enabling overexpression experiments and avoiding the use of exogenous expression ... guides is transformative for performing systematic gain-of-function studies. , This complement to ...
(Date:10/11/2017)... and LAGUNA HILLS, Calif. , Oct. ... Cancer Research, London (ICR) and University ... SKY92, SkylineDx,s prognostic tool to risk-stratify patients with multiple myeloma ... MUK nine . The University of Leeds ... partly funded by Myeloma UK, and ICR will perform the ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... company advancing targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that ... Polymerized Liposomal Nanoparticle), a technology developed in collaboration with Children’s Hospital Los ...
(Date:10/10/2017)... (PRWEB) , ... October 10, 2017 , ... ... innovation and business process optimization firm for the life sciences and healthcare industries, ... conference in San Francisco. , The presentation, “Automating GxP Validation for Agile ...
Breaking Biology Technology: