scholarly journals Genes in the Azoospermia Factor A Region of the Y Chromosome Show Sexual Dimorphism in Rat Brain Prior to Gonadal Sex Differentiation

Author(s):  
Ajay Pradhan ◽  
Subrata Pramanik ◽  
Per-Erik Olsson

Abstract BackgroundThe classical concept of brain sex differentiation suggests that steroid hormones released from the gonads program male and female brains differently. However, several studies indicate that steroid hormones are not the only determinant of brain sex differentiation and that genetic differences could also be involved.MethodsIn this study, we have performed RNA sequencing of rat brains at embryonic days 12 (E12), E13, and E14. The aim was to identify differentially expressed genes between male and female rat brains during early development. ResultsAnalysis of genes expressed with the highest sex differences showed that Xist was highly expressed in females having XX genotype with an increasing ratio over time. Analysis of genes expressed with the highest male expression identified three main genes. At E12, two genes located in the azoospermia factor A (AZFa) region on the Y chromosome were highly expressed in males. These were Ddx3y (1552-fold higher in males) and Kdm6c (147-fold higher in males). The expression of Kdm6c, but not Ddx3y, remained high at both E13 and E14. In qRT-PCR analysis, these two genes were highly expressed in all the stages in male brain. In addition to these genes, one of the several copies of Sry in the rat genome, Sry4, showed a high expression in the male brains at all three time points. At all three time points several other genes were also found to show sex bias, but with lower differences in gene expression. ConclusionThe observed sex-specific expression of genes at early development suggests that the rat brain is sexually dimorphic prior to gonadal action on the brain and identifies the AZFa region genes as a possible contributor to male brain development.

1997 ◽  
Vol 43 (2) ◽  
pp. 173-178 ◽  
Author(s):  
Francisco Molina-Holgado ◽  
Francisco J. Alvarez ◽  
Isabel Gonzalez ◽  
Maria T. Antonio ◽  
Maria L. Leret

1996 ◽  
Vol 8 (3) ◽  
pp. 465 ◽  
Author(s):  
Gandarias JM de ◽  
J Irazusta ◽  
E Echevarria ◽  
J Gil ◽  
L Casis

It has been recently suggested that enkephalins might play a normal role in the regulation of cellular development in brain. Since the major pathway of enkephalin degradation seems to occur under the action of aminopeptidases, in the present paper we describe the changes in Tyr-aminopeptidase activities during several stages of the rat (male and female) brain development (9, 12, 15, 20 and 25 days postbirth). The enzyme activities (soluble and membrane-bound) were detected using Tyr-2-naphthylamide as substrate. No sexual differences were observed. However, significant rises from the 9th to the 15th postnatal day in the soluble peptidase activity were appreciated. Aminopeptidase M shows decreases in the activity with age. It is suggested that not only the enkephalins but also the enkephalin-degrading enzymes could play a part in the maturation of the rat brain.


Endocrinology ◽  
2011 ◽  
Vol 152 (1) ◽  
pp. 223-235 ◽  
Author(s):  
Anne T. M. Konkle ◽  
Margaret M. McCarthy

Abstract The prevailing view of sexual differentiation of mammalian brain is that androgen synthesized in the fetal and neonatal testis and aromatized centrally during a perinatal sensitive period is the sole source of brain estradiol and the primary determinant of sex differences. Subregions of the diencephalon are among the most sexually dimorphic in the brain, and there are well-established sex differences in the amount of testosterone and estradiol measured in the hypothalamus and preoptic area during the perinatal period. We previously reported unexpectedly high estradiol in the hippocampus and cortex of both male and female newborn rat. This prompted a thorough investigation of the developmental profile of steroids in the rat brain using RIA to quantify the level of estradiol, testosterone, and dihydrotestosterone in discrete subregions of the brain from embryonic d 19 to adulthood. Plasma estradiol levels from individual animals were assessed when sufficient sample was available. A significant sex difference in hypothalamic testosterone prior to birth was consistent with previous findings. Postnatally, there was a distinct pattern of changing steroid concentrations in each brain region, and these were unrelated to circulating steroid. Removal of the gonads and adrenals at birth did not significantly reduce steroids in any brain region assayed 3 d later. Aromatase activity was detectable in all brain areas at birth, and the difference in activity level paralleled the observed regional differences in estradiol content. Based on these findings, we propose that steroidogenesis in the brain, independent of peripherally derived precursors, may play a critical role in mammalian brain development of both sexes, beyond the establishment of sex differences.


1997 ◽  
Vol 129 (2) ◽  
pp. 181-190 ◽  
Author(s):  
Angelo Poletti ◽  
Fabio Celotti ◽  
Cristiano Rumio ◽  
Monica Rabuffetti ◽  
Luciano Martini
Keyword(s):  

Neuroscience ◽  
2002 ◽  
Vol 114 (1) ◽  
pp. 195-206 ◽  
Author(s):  
A Papaioannou ◽  
U Dafni ◽  
F Alikaridis ◽  
S Bolaris ◽  
F Stylianopoulou

2000 ◽  
Vol 346 (3) ◽  
pp. 857-864 ◽  
Author(s):  
Charles N. FALANY ◽  
Xiaowei XIE ◽  
Jin WANG ◽  
Jorge FERRER ◽  
Josie L. FALANY

The sulphotransferase (SULT) gene family is involved with the conjugation of many small drugs, xenobiotics and endogenous compounds. In this report, we describe the cloning and expression of novel cDNAs from human and rat brain, which are structurally related to the SULTs. These cDNAs have been termed ‘brain sulphotransferase-like’ (BR-STL), because of their similarity to the SULTs and their selective expression in brain tissue. The proteins encoded by the human and rat BR-STL cDNAs (hBR-STL-1 and rBR-STL cDNA respectively), denoted as hBR-STL and rBR-STL, are 98% identical and 99% similar in sequence. The hBR-STL-1 cDNA contains an 852-nt open reading frame encoding a 284-amino-acid protein with a calculated molecular mass of 33083 Da. Northern-blot analyses of RNA isolated from eight human tissues indicate that the hBR-STL message is selectively expressed in brain. Characterization of different brain regions showed that message levels were highest in cortical brain regions. rBR-STL message levels were relatively low in brains of 1-day-old male and female rats, but increased to adult levels in RNA from 7-day-old rats, and remained at that level in adult animals. The hBR-STL and rBR-STL cDNAs were expressed in both Escherichia coli and Sf9 insect cells in the presence or absence of an N-terminal histidine-affinity tag (His-tag). Polyclonal antibodies were raised in chickens against purified His-tagged hBR-STL, and were used to detect the presence of rBR-STL in adult male and female rat brain cytosol. The high degree of sequence conservation, and the selective localization of the BR-STL message in brain, suggest an important function in the central nervous system.


2018 ◽  
Vol 15 (2) ◽  
pp. 351-357 ◽  
Author(s):  
Prafulla S. Ambulkar ◽  
Sunil S. Pande

The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.


2020 ◽  
Vol 40 (04) ◽  
pp. 540-542
Author(s):  
Hee-Ryung Lee

The disorder of the X chromosome causes defects in sex differentiation in the female phenotype. This work reports a six-month-old, Cocker Spaniel dog with intersex disorder diagnosed as pseudo-hermaphroditism. The dog was brought to the clinic with a swollen reddish penis-like protrusion, which was partially covered by the sheath. Clinical examination revealed the presence of raised nipple-like structures, resembling the nipples and extending from chest to groin region. However, the testes could not be detected. PCR analysis revealed the absence of the Y chromosome. A corrective surgery, including clitoridectomy, and removal of uterus and testicles-like structures, was performed. Histological examination of the removed organs showed underdeveloped testes and well-recognized endometrium. This report suggests that surgical correction may be used to overcome any possible complications in a six-month-old dog with pseudo-hermaphroditism


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