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Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development
Stockholm University, Faculty of Science, Department of Biochemistry and Biophysics. Stockholm University, Science for Life Laboratory (SciLifeLab).
Stockholm University, Faculty of Science, Department of Biochemistry and Biophysics. Stockholm University, Science for Life Laboratory (SciLifeLab).
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Number of Authors: 9
2016 (English)In: Biology of Sex Differences, ISSN 2042-6410, Vol. 7Article in journal (Refereed) Published
Abstract [en]

Background: Renewed attention has been directed to the functions of the Y chromosome in the central nervous system during early human male development, due to the recent proposed involvement in neurodevelopmental diseases. PCDH11Y and NLGN4Y are of special interest because they belong to gene families involved in cell fate determination and formation of dendrites and axon. Methods: We used RNA sequencing, immunocytochemistry and a padlock probing and rolling circle amplification strategy, to distinguish the expression of X and Y homologs in situ in the human brain for the first time. To minimize influence of androgens on the sex differences in the brain, we focused our investigation to human embryos at 8-11 weeks post-gestation. Results: We found that the X- and Y-encoded genes are expressed in specific and heterogeneous cellular sub-populations of both glial and neuronal origins. More importantly, we found differential distribution patterns of X and Y homologs in the male developing central nervous system. Conclusions: This study has visualized the spatial distribution of PCDH11X/Y and NLGN4X/Y in human developing nervous tissue. The observed spatial distribution patterns suggest the existence of an additional layer of complexity in the development of the male CNS.

Place, publisher, year, edition, pages
2016. Vol. 7
Keyword [en]
Sex differences, Human embryo development, Female, Male, Gene expression, Protocadherin, Neuroligin, X chromosome, Y chromosome, Brain, Spinal cord, Cortex, Medulla oblongata, Rolling circle amplification, PCDH11X, PCDH11Y, NLGN4X, NLGN4Y, ISLET1, OLIG2, SOX10, NeuN
National Category
Biological Sciences Medical Genetics
Identifiers
URN: urn:nbn:se:su:diva-126904DOI: 10.1186/s13293-015-0056-4ISI: 000368237900003PubMedID: 26759715OAI: oai:DiVA.org:su-126904DiVA: diva2:903887
Available from: 2016-02-17 Created: 2016-02-16 Last updated: 2016-02-17Bibliographically approved

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Lundin, ElinQian, XiaoyanNilsson, Mats
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