The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain

Mayer, Anette; Lahr, Georgia; Swaab, D.F.; Pilgrim, Christoph; Reisert, Ingrid

doi:10.1007/s100480050042

Cited by 121 publications

(71 citation statements)

References 46 publications

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“…The expression in our microarray data was low for SRY (TDY shown in Figure 2), but did show a male to female ratio of 12.5, in line with the prior report of low abundance in male cortex and absence in female cortex (Mayer et al, 1998). Moreover, the abundance of SRY protein expression was too low to measure by immunohistochemistry in postmortem human brain (Mayer et al, 1998).…”

Section: Sex Chromosome Linked Gene Expressionsupporting

confidence: 86%

“…Moreover, the abundance of SRY protein expression was too low to measure by immunohistochemistry in postmortem human brain (Mayer et al, 1998). For ZFY, a modest difference between male and female brain samples was found by microarray analysis (ratio of 1.27) that was not statistically significant.…”

Section: Sex Chromosome Linked Gene Expressionmentioning

confidence: 89%

“…The roles of these neuronal genes in neurobiology will be of interest, especially since it appears that a subset of neurons express these gender-specific genes. A prior report of gene expression of ZFY and SRY in adult human cortex (Mayer et al, 1998) commented that male-specific transcriptional regulation in neurons might occur as a result of the expression of these two DNA binding proteins, ZFY and SRY:…”

Section: Sex Chromosome Linked Gene Expressionmentioning

confidence: 99%

“…The number of dopaminergic midbrain neurons during development in mice can be independent of the effects of testosterone or estrogen, and related to expression of sex chromosome genes (Carruth et al, 2002). The expression of two Y chromosome genes in human brain, SRY (sex determining region Y) and ZFY, suggests that Y chromosome gene expression in adult brain might play some role in gender differences (Mayer et al, 1998). ZFY and SRY were found in frontal cortex and hypothalamus of males, but not in the temporal cortex of males, and both were absent in all brain regions of females (Mayer et al, 1998).…”

Section: Introductionmentioning

confidence: 99%

“…The expression of two Y chromosome genes in human brain, SRY (sex determining region Y) and ZFY, suggests that Y chromosome gene expression in adult brain might play some role in gender differences (Mayer et al, 1998). ZFY and SRY were found in frontal cortex and hypothalamus of males, but not in the temporal cortex of males, and both were absent in all brain regions of females (Mayer et al, 1998). The mRNA expressions of Y-linked genes (Usp9y, Ube1y, Smcy, Eif2s3y, Uty, and Dby) are found exclusively in male mouse brain and the X-chromosome gene, XIST, is expressed only in female mouse brain (Eriksson et al, 1999;Xu et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

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Gender-Specific Gene Expression in Post-Mortem Human Brain: Localization to Sex Chromosomes

Vawter

Evans

Choudary

et al. 2003

Neuropsychopharmacol

195

151

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Gender differences in brain development and in the prevalence of neuropsychiatric disorders such as depression have been reported. Gender differences in human brain might be related to patterns of gene expression. Microarray technology is one useful method for investigation of gene expression in brain. We investigated gene expression, cell types, and regional expression patterns of differentially expressed sex chromosome genes in brain. We profiled gene expression in male and female dorsolateral prefrontal cortex, anterior cingulate cortex, and cerebellum using the Affymetrix oligonucleotide microarray platform. Differentially expressed genes between males and females on the Y chromosome (DBY, SMCY, UTY, RPS4Y, and USP9Y) and X chromosome (XIST) were confirmed using real-time PCR measurements. In situ hybridization confirmed the differential expression of gender-specific genes and neuronal expression of XIST, RPS4Y, SMCY, and UTY in three brain regions examined. The XIST gene, which silences gene expression on regions of the X chromosome, is expressed in a subset of neurons. Since a subset of neurons express gender-specific genes, neural subpopulations may exhibit a subtle sexual dimorphism at the level of differences in gene regulation and function. The distinctive pattern of neuronal expression of XIST, RPS4Y, SMCY, and UTY and other sex chromosome genes in neuronal subpopulations may possibly contribute to gender differences in prevalence noted for some neuropsychiatric disorders. Studies of the protein expression of these sexchromosome-linked genes in brain tissue are required to address the functional consequences of the observed gene expression differences.

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Section: Sex Chromosome Linked Gene Expressionsupporting

confidence: 86%

Section: Sex Chromosome Linked Gene Expressionmentioning

confidence: 89%

Section: Sex Chromosome Linked Gene Expressionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Gender-Specific Gene Expression in Post-Mortem Human Brain: Localization to Sex Chromosomes

Vawter

Evans

Choudary

et al. 2003

Neuropsychopharmacol

195

151

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The Genetics and Biology of Sex Determination

Chadwick¹,

Goode²

2002

Novartis Foundation Symposia

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Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression

Ross

Bloy

Roberts

et al. 2019

American J of Med Genetics Pt B

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We describe a unique male with a dicentric Y chromosome whose phenotype was compared to that of males with 47,XYY (XYY). The male Y-chromosome aneuploidy XYY is associated with physical, behavioral/cognitive phenotypes, and autism spectrum disorders. We hypothesize that increased risk for these phenotypes is caused by increased copy number/overexpression of Y-encoded genes. Specifically, an extra copy of the neuroligin gene NLGN4Y might elevate the risk of autism in boys with XYY. We present a unique male with the karyotype 46,X,idic(Y)(q11.22), which includes duplication of the Y short arm and proximal long arm and deletion of the distal long arm, evaluated his physical, behavioral/cognitive, and neuroimaging/magnetoencephalography (MEG) phenotypes, and measured blood RNA expression of Y genes. The proband had tall stature and cognitive function within the typical range, without autism features. His blood RNA showed two-fold increase in expression of Yp genes versus XY controls, and absent expression of deleted Yq genes, including NLGN4Y. The M100 latencies were similar to findings in typically developing males. In summary, the proband had overexpression of a subset of Yp genes, absent NLGN4Y expression, without ASD findings or XYY-MEG latency findings. These results are consistent with a role for NLGN4Y overexpression in the etiology of behavioral phenotypes associated with XYY. Further investigation of NLGN4Y as an ASD risk gene in XYY is warranted. The genotype and phenotype(s) of this subject may also provide insight into how Y chromosome genes contribute to normal male development and the male predominance in ASD.

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The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain

Cited by 121 publications

References 46 publications

Gender-Specific Gene Expression in Post-Mortem Human Brain: Localization to Sex Chromosomes

Gender-Specific Gene Expression in Post-Mortem Human Brain: Localization to Sex Chromosomes

The Genetics and Biology of Sex Determination

Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression

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