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Survival of the females

A study by Jana Beckelmann found that female horse embryos produce more insulin-like growth factor-1 (IGF1) than male embryos, which may help explain the uneven sex ratio of equine births. This discovery sheds light on a previously unknown mechanism driving sexual dimorphism in horses.

Genetic link between pancreatitis and alcohol consumption, says Pitt team

Researchers identified a genetic variant on chromosome X that predicts high-risk men who drink heavily are at risk for developing chronic pancreatitis. The discovery enables doctors to identify patients with early signs of pancreatitis or acute attacks, allowing them to take preventative action and give the pancreas a chance to heal.

Researchers peek at the early evolution of sex chromosomes

Researchers studying papaya's sex chromosomes have found that the X chromosome has undergone significant changes since its emergence, including rapid expansion and gene loss. These findings challenge previous assumptions about the early stages of sex chromosome evolution and provide insights into the human X chromosome.

SourceUniversity of Illinois at Urbana-Champaign, News Bureau·JournalProceedings of the National Academy of Sciences·DateAug 6, 2012

What sex are you?

A team of researchers has determined that overexpression of the Sox3 gene in mice causes frequent XX male sex reversal. Genomic rearrangements in the human SOX3 gene have been found in three patients with XX male sex reversal, suggesting a significant cause for this condition.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 22, 2010

Aurora B answers an XIST-ential question

Researchers found that Aurora B kinase helps regulate XIST's chromatin binding by phosphorylating chromatin proteins during mitosis. This study provides insight into X chromosome silencing and may lead to a better understanding of noncoding RNAs and their role in regulating heterochromatin.

SourceRockefeller University Press·JournalJournal of Cell Biology·DateAug 24, 2009

The genetic X-factor

A study of over 200 families with learning disabilities has discovered nine new genes on the X chromosome associated with the condition. The research highlights the challenges of identifying genetic causes and cautions against assuming that a knocked-out gene is causing a disease.

SourceWellcome Trust Sanger Institute·JournalNature Genetics·DateApr 19, 2009

How chromosomes meet in the dark -- switch that turns on X chromosome matchmaking

Scientists at the University of Warwick have discovered a thermodynamic switch that enables the pairing of X chromosomes in female cells during embryo development. The discovery sheds light on the complex mechanism behind X-chromosome inactivation and its role in preventing medical conditions such as Down's Syndrome and Turner's Syndrome.

SourceUniversity of Warwick·JournalPLOS Computational Biology·DateDec 26, 2008

X chromosome exposed

A chromatin modifying enzyme helps compensate for the fact that males have only one copy of the sex chromosome X by binding differently to male and female sex chromosomes. This process, called dosage compensation, ensures that males produce the same amount of proteins as females despite their single X chromosome.

Discovery of new cause of mental retardation simplifies search for treatments

Researchers have identified a new cause of mental retardation, finding that duplication of two proteins (HSD17B10 and HUWE1) leads to overproduction, offering promising possibilities for treatments. The discovery simplifies the search for remedies by targeting protein production rather than repairing or replacing defective proteins.

SourceVIB (the Flanders Institute for Biotechnology)·JournalAmerican Journal of Human Genetics·DateJan 24, 2008

How do you know whether you are male or female?

A new study published in PLOS Biology found that the number of X chromosomes determines the sex of a fruit fly embryo, contradicting previous findings. The researchers discovered that only two X chromosomes can produce a signal to feminize the embryo during a specific stage of development.

SourcePLOS·JournalPLOS Biology·DateDec 26, 2007

JCI table of contents: Dec. 20, 2007

Researchers found that antimalarial drug chloroquine effectively prevents cancer in mouse models of two distinct human cancer syndromes, Burkitt lymphoma and ataxia telangiectasia. Chloroquine inhibited the development of Myc-induced lymphomas and mediated its effects through autophagy and lysosomal stress.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 20, 2007

A sex-ratio meiotic drive system in Drosophila simulans

Researchers have identified a sex-ratio meiotic drive system in Drosophila simulans, with an X-linked distorter gene that creates skewed female litters and an autosomal suppressor gene that counteracts this effect. The findings provide insights into the molecular mechanisms underlying sex ratio distortion.

SourcePLOS·JournalPLOS Biology·DateNov 5, 2007

X chromosomes key to sex differences in health

Research suggests that X-linked genes determine sex differences in disease, with males more vulnerable to deleterious mutations due to having only one copy of the gene. Females, on the other hand, have a backup copy, allowing them to mitigate the effect of mutations and expressing genes in a mixture of cells.

SourceJAMA Network·JournalJAMA·DateMar 21, 2006

Equalizing the sexes

New research reveals the Drosophila homolog of the mammalian UNR protein as a co-factor required for SXL-mediated repression of msl-2 translation. This mechanism prevents dosage compensation in female cells, highlighting an essential role for the UNR protein in maintaining sex-specific regulation.

SourceCold Spring Harbor Laboratory·JournalGenes & Development·DateJan 31, 2006