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Abundance of female-biased and paucity of male-biased somatically expressed genes on the mouse X-chromosome
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology. (Jazin Elena)
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology. (Jazin Elena)
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology. (Jazin Elena)
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2012 (English)In: BMC Genomics, ISSN 1471-2164, Vol. 13, 607- p.Article in journal (Refereed) Published
Abstract [en]


Empirical evaluations of sexually dimorphic expression of genes on the mammalian X-chromosome are needed to understand the evolutionary forces and the gene-regulatory mechanisms controlling this chromosome. We performed a large-scale sex-bias expression analysis of genes on the X-chromosome in six different somatic tissues from mouse.


Our results show that the mouse X-chromosome is enriched with female-biased genes and depleted of male-biased genes. This suggests that feminisation as well as de-masculinisation of the X-chromosome has occurred in terms of gene expression in non-reproductive tissues. Several mechanisms may be responsible for the control of female-biased expression on chromosome X, and escape from X-inactivation is a main candidate. We confirmed escape in case of Tmem29 using RNA-FISH analysis. In addition, we identified novel female-biased non-coding transcripts located in the same female-biased cluster as the well-known coding X-inactivation escapee Kdm5c, likely transcribed from the transition-region between active and silenced domains. We also found that previously known escapees only partially explained the overrepresentation of female-biased X-genes, particularly for tissue-specific female-biased genes. Therefore, the gene set we have identified contains tissue-specific escapees and/or genes controlled by other sexually skewed regulatory mechanisms. Analysis of gene age showed that evolutionarily old X-genes (>100 myr, preceding the radiation of placental mammals) are more frequently female-biased than younger genes.


Altogether, our results have implications for understanding both gene regulation and gene evolution of mammalian X-chromosomes, and suggest that the final result in terms of the X-gene composition (masculinisation versus feminisation) is a compromise between different evolutionary forces acting on reproductive and somatic tissues.

Place, publisher, year, edition, pages
2012. Vol. 13, 607- p.
Keyword [en]
X-chromosome, Sex chromosome; Somatic; Gene expression; Sexual antagonism; Sexual selection; Gender; Sex-bias; Female-bias; Male-bias; Sexual dimorphism; Dosage compensation; X-inactivation; Escape; Feminisation; Masculinisation; De-masculinisation; Microarray; Non-coding RNA; lncRNA; Tmem29; Kdm5c; Xist
National Category
Research subject
Genetics; Biology with specialization in Animal Development; Biology with specialization in Molecular Biology
URN: urn:nbn:se:uu:diva-191574DOI: 10.1186/1471-2164-13-607ISI: 000312959100001OAI: diva2:585872
Available from: 2013-01-11 Created: 2013-01-10 Last updated: 2015-10-05Bibliographically approved
In thesis
1. The Human Y chromosome and its role in the developing male nervous system
Open this publication in new window or tab >>The Human Y chromosome and its role in the developing male nervous system
2015 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. Expression data from six different somatic tissues was analyzed and we found that the X chromosome is enriched in female biased genes and depleted of male biased ones. The second study described copy number variation (CNV) patterns in a world-wide collection of human Y chromosome samples. Contrary to expectations, duplications and not deletions were the most frequent variations. We also discovered novel CNV patterns of which some were significantly overrepresented in specific haplogroups. A substantial part of the thesis focuses on analysis of spatial expression of two Y-encoded brain-specific genes, namely PCDH11Y and NLGN4Y. The perhaps most surprising discovery was the observation that X and Y transcripts of both gene pairs are mostly expressed in different cells in human spinal cord and medulla oblongata. Also, we detected spatial expression differences for the PCDH11X gene in spinal cord. The main focus of the spatial investigations was to uncover genetically coded sexual differences in expression during early development of human central nervous system (CNS). Also, investigations of the expression profiles for 13 X and Y homolog gene pairs in human CNS, adult brain, testes and still-born chimpanzee brain samples were included. Contrary to previous studies, we found only three X-encoded genes from the 13 X/Y homologous gene pairs studied that exhibit female-bias. We also describe six novel non-coding RNAs encoded in the human MSY, some of which are polyadenylated and with conserved expression in chimpanzee brain. The description of dimorphic cellular expression patterns of X- and Y-linked genes should boost the interest in the human specific gene PCDH11Y, and draw attention to other Y-encoded genes expressed in the brain during development. This may help to elucidate the role of the Y chromosome in sex differences during early CNS development in humans.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2015. 63 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, ISSN 1651-6214 ; 1285
MSY, sex differences, CNV, SNP, palindrome, palindromes, gr/gr duplication, gr/gr deletion, b2/b3 deletion, b2/b3 duplication, blue-grey duplication, blue-grey like duplication, IR2, U3, STS, AZFa, AZFb, AZFc, Olivary nucleus, Medulla oblongata, spinal cord, white matter, Affymetrix 6.0, embryo, embryonal, haplogroup, haplogroups, R1a, R1b, R-M207, E-M96, I-M170, J-M304, G-M201, Ashkenazi, Bolivian, Chinese, SNP array, padlock probing, AMY-tree
National Category
Research subject
Biology with specialization in Animal Development
urn:nbn:se:uu:diva-261789 (URN)978-91-554-9331-8 (ISBN)
Public defence
2015-10-23, Zootissalen (EBC 01.01006), Evolutionsbiologiskt centrum, EBC, Villavägen 9, Uppsala, 13:15 (English)
Swedish Research Council, K2012-61X-22089-01-3

chinese, finnish, norwegian, schizophrenia, bipolar, bipolar disorder, msy, male specific region Y, PAR1, PAR2, pseudoautosomal, male-biased, female-biased, male biased, female biased, ashkenazi population, structure, variants, YHRD, Elena Jazin, Björn Reinius, Per Ahlberg, brain, hjärna, CNS, central nervous system, IR2, inverted repeat 2, isodicentric, genetics, genetik, padlock, rolling circle, amplification, PCR, sY1191, sY1291, STS, DDX3Y, DAZ, AZFa, AZFb, AZFc, AZF, Repping, haplogroup J, rearrangements, DE-M145, I-M170, E-M96, Q-M242, R-M207, O-M175, G-M201, D-M174, C-M130, NO-M214, N-M231, poland

Available from: 2015-10-02 Created: 2015-09-04 Last updated: 2015-10-23Bibliographically approved

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