scholarly journals Idiopathic Central Precocious Puberty Associated with 11 MbDe NovoDistal Deletion of the Chromosome 9 Short Arm

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Mariangela Cisternino ◽  
Erika Della Mina ◽  
Laura Losa ◽  
Alexandra Madè ◽  
Giulia Rossetti ◽  
...  

We report a girl with ade novodistal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion. A third case associates precocious puberty with a more proximal 9p deletion del(9)(p12p13,3). In our case, more than 40 genes were encompassed in the deleted region, among which, DMRT1 which is gonad-specific and has a sexually dimorphic expression pattern and ERMP1 which is required in rats for the organization of somatic cells and oocytes into discrete follicular structures. Although we cannot exclude that precocious puberty in our del(9p) patient is a coincidental finding, the report of the other two patients with 9p deletions and precocious puberty indeed suggests a causative relationship.

Epigenomics ◽  
2020 ◽  
Vol 12 (17) ◽  
pp. 1543-1558 ◽  
Author(s):  
Lauren A Eaves ◽  
Preeyaphan Phookphan ◽  
Julia E Rager ◽  
Jacqueline Bangma ◽  
Hudson P Santos ◽  
...  

Aim: The contribution of miRNAs as epigenetic regulators of sexually dimorphic gene expression in the placenta is unknown. Materials & methods: 382 placentas from the extremely low gestational age newborns (ELGAN) cohort were evaluated for expression levels of 37,268 mRNAs and 2,102 miRNAs using genome-wide RNA-sequencing. Differential expression analysis was used to identify differences in the expression based on the sex of the fetus. Results: Sexually dimorphic expression was observed for 128 mRNAs and 59 miRNAs. A set of 25 miRNA master regulators was identified that likely contribute to the sexual dimorphic mRNA expression. Conclusion: These data highlight sex-dependent miRNA and mRNA patterning in the placenta and provide insight into a potential mechanism for observed sex differences in outcomes.


Genetics ◽  
2014 ◽  
Vol 198 (2) ◽  
pp. 647-668 ◽  
Author(s):  
Delphine Fagegaltier ◽  
Annekatrin König ◽  
Assaf Gordon ◽  
Eric C. Lai ◽  
Thomas R. Gingeras ◽  
...  

1990 ◽  
Vol 4 (8) ◽  
pp. 1235-1239 ◽  
Author(s):  
John A. Robertson ◽  
Lars-Arne Haldosén ◽  
Timothy J. J. Wood ◽  
Maureen K. Steed ◽  
Jan-Åke Gustafsson

2021 ◽  
Author(s):  
Matthew J Gadenne ◽  
Iris Hardege ◽  
Djordji Suleski ◽  
Paris Jaggers ◽  
Isabel Beets ◽  
...  

Sexual dimorphism occurs where different sexes of the same species display differences in characteristics not limited to reproduction. For the nematode Caenorhabditis elegans, in which the complete neuroanatomy has been solved for both hermaphrodites and males, sexually dimorphic features have been observed both in terms of the number of neurons and in synaptic connectivity. In addition, male behaviours, such as food-leaving to prioritise searching for mates, have been attributed to neuropeptides released from sex-shared or sex-specific neurons. In this study, we show that the lury-1 neuropeptide gene shows a sexually dimorphic expression pattern; being expressed in pharyngeal neurons in both sexes but displaying additional expression in tail neurons only in the male. We also show that lury-1 mutant animals show sex differences in feeding behaviours, with pharyngeal pumping elevated in hermaphrodites but reduced in males. LURY-1 also modulates male mating efficiency, influencing motor events during contact with a hermaphrodite. Our findings indicate sex-specific roles of this peptide in feeding and reproduction in C. elegans, providing further insight into neuromodulatory control of sexually dimorphic behaviours.


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