Medical researchers in Melbourne Murdoch Children Research Institute have made new discoveries about how the sex of the baby is determined - it's not just about the XY chromosome, but it involves a 'regulator' which increases or decreases the activity of genes that determine whether we become male or female ,
research, 'Man Sex Reversal is caused by duplication or Elimination core Upstream Enhancer Sox9' has been published in the journal Nature Communications. MCRI Hudson Institute researcher and PhD student, Brittany Croft, is the first author.
"baby's sex is determined by the make-up of chromosomes at conception. The embryo with two X chromosomes will be a girl, while the embryo with the XY combination results in boys," said Ms Croft.
"Y chromosome carries a gene critical, called SRY, which is working on a gene called Sox9 other to start the development of the testes in the embryo. High levels of gene Sox9 is required for the development of normal testis.
" However, if there is some interference Sox9 activity and only low levels are present, the testicles will not develop produce babies with disorders of sex development. "
The main author of the study, Professor Andrew Sinclair, said that 90 percent of human DNA consists of so-called 'junk DNA or dark matter' that do not contain genes but do not carry important regulator that increases or decreases in gene activity.
"this segment of regulatory DNA called enhancers," he said. If the enhancer is that control testicular gene disrupted can cause the baby to be born with disorders of sexual development. "
Professor Sinclair, who is also a member of the Paediatrics Department of the University of Melbourne, says the study is trying to understand how the Sox9 gene regulated by the enhancer enhancer and whether interference will result in sexual development disorders.
"We found three enhancers that together ensure Sox9 gene is turned to a high level in the XY embryo, leading to normal testes and male development," he said.
"important, we identify XX patients who normally would have ovaries and became female, but made additional copies of the enhancer's, (high levels of Sox9) and testes instead be developed. In addition, we found that patients XY who have lost enhancers Sox9 this, (low levels of Sox9) and developed ovaries instead of testes. "
Ms Croft said the sex reversal of man as seen in this case due to the profit or loss on these enhancers important that regulate gene Sox9; , Consequently, three enhancer is necessary for normal testis and the development of male "
" This research is important because the researchers past just looking at the genes to diagnose these patients, but we have shown you need to look beyond genes to enhancer, "said Ms Croft.
Professor Sinclair said that the entire human genome there are around one million enhancer controls about 22,000 genes.
" enhancer is located in the DNA but the genes outside, in the area -area previously designated as junk DNA or dark matter, "he said." the key to diagnosing the disorder can be found in this enhancer that hides in a poorly understood dark matter of our DNA. "
Funding Acknowledgments < / p>
this work was supported by the National Health and Medical Research Council (NHMRC) grant program 1074258 Andrew Sinclair, Peter Koopman, Vincent Harley and NHMRC project provides for Andrew Sinclair 1,031,214.
ARC gives n DP150102120 and DP160104948 to Peter Koopman. Brittany Croft supported by Australia. Government Research Training Program Scholarship. Rajini Sreenivasan 608 is supported by the NHMRC Early Career Fellowship No.1126995. NHMRC Fellowships supported Andrew Sinclair (1062854), Peter Koopman (1059006) and Vincent Harley (1020034)
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