Corrigendum: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis

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.

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Abstract 175: The Role of ER-α, ER-ß, and AR in the FCG Model of Ischemic Brain Injury

Stroke ◽

10.1161/str.45.suppl_1.175 ◽

2014 ◽

Vol 45 (suppl_1) ◽

Author(s):

Kathryn C Bentivegna ◽

Bharti Manwani ◽

Sharon E Benashski ◽

Sarah Doran ◽

Sarah Pan ◽

...

Keyword(s):

Brain Injury ◽

Y Chromosome ◽

Sex Chromosome ◽

Chromosome Complement ◽

Pcr Analysis ◽

Sexually Dimorphic ◽

Ischemic Brain Injury ◽

Rt Pcr ◽

Ischemic Brain ◽

Significant Difference

Background: Ischemic stroke is a sexually dimorphic disease. Females are protected from ischemic brain injury throughout most of the lifespan, but the contribution of hormones in this “ischemia resistant” phenotype remains unclear. The “four core genotype” (FCG) model is used to differentiate the effect of the chromosomal complement (XX vs. XY) from an animal’s gonadal (estrogen vs. testosterone producing) sex through examination of five genotypes XYMwt, XY-M, XXM, XXF, and XYF. XY-M FCG mice are made by the translocation of Sry from the Y chromosome to an autosome. Stroke sex differences have been largely attributed to the neuroprotective effects of estrogen. However, it remains unclear whether hormonal receptors can be influenced at the chromosomal level, which could further explain sexual dimorphism in stroke phenotypes. We hypothesize that the sex chromosome complement and transgene Sry (the testis determining gene found on the Y chromosome) contribute to the sexually dimorphic stroke phenotype. Methods: FCG animals were gonadectomized at 3 weeks of age. Animals were subjected to stroke at 8-12 weeks of age. Cytosolic samples were evaluated for androgen receptor (AR) and estrogen receptor (ER-α and ER-β) levels in sham and stroke samples. RT-PCR for Sry on the stroke hemisphere (delta-delta-CT) was performed on the FCG mice and wild type males. Results: Western blot analysis showed that XXM and XXF mice had significant stroke induced reduction in AR expression (p<0.01). No significant difference in the expression of ER-α was seen in sham and stroke mice among genotypes. ER-β expression increased significantly in XXM post stroke (p<0.05), but not in the other genotypes. RT-PCR analysis showed approximately 90-fold increase of mRNA expression of Sry in the phenotypes with the exogenous Sry (XYM and XXM) compared to WTM mice with endogenous Sry (p<0.05). Conclusion: XXM and XYM mice show an increase in Sry expression compared to WTM suggesting insertional and positional effects of Sry transgene. AR expression in XXM and XXF mice is influenced at the chromosomal level, suggesting effects of X chromosome dosage on AR expression. Stroke induced ER-β expression in XXM mice may be an effect of the interaction between transgene Sry and other hormonal axes.

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Gender loci in DNA forensics and women's sports

Biomics ◽

10.31301/2221-6197.bmcs.2021-6 ◽

2021 ◽

Vol 13 (1) ◽

pp. 54-74

Author(s):

R.R. Garafutdinov ◽

A.R. Sakhabutdinova ◽

Ya.I. Alekseev ◽

A.V. Chemeris

Keyword(s):

Y Chromosome ◽

Forensic Medicine ◽

Dna Sequences ◽

Female Athletes ◽

Ethical Issues ◽

False Negative ◽

Pcr Analysis ◽

Women's Sports ◽

Genetic Characteristics ◽

Women’S Sports

In forensic medicine, it is necessary to establish the sexual identity of the owner of the analyzed biological material. To do this, it is necessary to use PCR to detect specific DNA sequences that are characteristic only of the Y chromosome. For these purposes, a number of loci are used, located on both the Y and X chromosomes but carrying certain differences in the nucleotide sequences (alpha satellites DYZ and DXZ; amelogenin loci AMELY and AMELX; STS steroid sulfatase genes; the genes of the neuroligin NLG4Y and NLG4X, etc.), and those located only on the Y-chromosome (sex-determining region SRY; gene of the specific testicular protein TSPY, etc.). At the same time, forensic experts often deal with damaged or old samples in which the DNA has been destroyed and extended fragments in it may simply not be, as a result of which false negative results will be formed. Thus, in DNA forensics, when detecting gender loci, the sizes of amplicons should tend to the minimum possible. Therefore, in this review article, a certain emphasis was placed on the size of amplicons, and as practice shows, for most loci, their minimization is in demand. Moreover, such a PCR analysis in a number of cases (in XX-men, XY-women, in persons with other sex chromosome abnormalities, in people who deliberately changed their gender identity) it can lead to a false definition of the phenotypic sex due to the genetic characteristics of such individuals. As a result, the ongoing investigation of a crime, focused on the search for a representative of a particular gender, can go down the wrong path. A cardinal solution to this problem in DNA criminology can be a universal DNA registration of the entire population, which will allow for the biological traces with high accuracy to establish a specific person to whom these traces belong and his real sex will no longer be important and it will not be relevant to determine it with the help of PCR. In addition to forensic medicine, the problem of establishing gender also exists in women's sports. For a whole decade, the PCR method and some of the loci listed above were used for this purpose, but since 2011 PCR has been abandoned and instead the level of the male hormone testosterone has became determined. However, with the gender of female athletes, there are much more ethical issues than genetic ones.

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PCR analysis of Y-chromosome deletions in subfertile men

The Lancet ◽

10.1016/s0140-6736(05)63245-x ◽

1997 ◽

Vol 349 (9062) ◽

pp. 1400 ◽

Cited By ~ 6

Author(s):

LH Hoefsloot ◽

JHAM Taerhngs ◽

JAM Kremer ◽

EJH Meuleman

Keyword(s):

Y Chromosome ◽

Pcr Analysis ◽

Chromosome Deletions

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Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis

Biosciences Biotechnology Research Asia ◽

10.13005/bbra/2639 ◽

2018 ◽

Vol 15 (2) ◽

pp. 351-357 ◽

Cited By ~ 1

Author(s):

Prafulla S. Ambulkar ◽

Sunil S. Pande

Keyword(s):

Multiplex Pcr ◽

Y Chromosome ◽

Pcr Analysis ◽

Obstructive Azoospermia ◽

Time Saving ◽

Pcr Screening ◽

Azoospermia Factor ◽

Sts Markers ◽

Y Chromosome Microdeletions ◽

Severe Impairment

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.

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Canine Disorder of Sex Differentiation

Pakistan Veterinary Journal ◽

10.29261/pakvetj/2020.050 ◽

2020 ◽

Vol 40 (04) ◽

pp. 540-542

Author(s):

Hee-Ryung Lee

Keyword(s):

Y Chromosome ◽

Histological Examination ◽

X Chromosome ◽

Clinical Examination ◽

Sex Differentiation ◽

Surgical Correction ◽

Pcr Analysis ◽

Corrective Surgery ◽

Cocker Spaniel ◽

Intersex Disorder

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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Sex Identification of Forensic Samples Using PCR Analysis for the Presence of Y-Chromosome Specific DNA Sequences

Advances in Forensic Haemogenetics ◽

10.1007/978-3-642-77324-2_8 ◽

1992 ◽

pp. 38-40 ◽

Cited By ~ 1

Author(s):

S. Nørby ◽

B. Eriksen

Keyword(s):

Y Chromosome ◽

Dna Sequences ◽

Sex Identification ◽

Pcr Analysis ◽

Forensic Samples

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Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review

Journal of Ovarian Research ◽

10.1186/s13048-019-0561-x ◽

2019 ◽

Vol 12 (1) ◽

Author(s):

Ana R. Flores ◽

João Lobo ◽

Francisco Nunes ◽

Alexandra Rêma ◽

Paula Lopes ◽

...

Keyword(s):

Germ Cell ◽

Y Chromosome ◽

Epithelial Membrane Antigen ◽

Histopathological Examination ◽

Stromal Tumour ◽

Pcr Analysis ◽

Case Presentation ◽

First Case

Abstract Background Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y chromosome. However, this entity in not recognized in the WHO classification of tumours of genital system of domestic animals. Herein, we describe a case of ovarian gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour components, in a phenotypically and cytogenetically normal bitch. Case presentation A 17-year-old cross-breed bitch had a firm, grey-white multinodular mass in the left ovary. The tumour was submitted to histopathological examination and Y chromosome detected through karyotype analysis and PCR studies. Microscopically, the ovary was almost replaced by an irregular neoplasm composed of three distinct, intermixed elements: dysgerminoma, mixed germ cell-sex cord-stromal tumour resembling human GB and a proliferative sex cord-stromal tumour component. The germ cells of gonadoblastoma and dysgerminoma components were immunoreactive for c-KIT. Sex cord-stromal cells of gonadoblastoma were immunoreactive for α-inhibin. The sex cord-stromal tumour was immunoreactive for AE1/AE3, occasionally for α-inhibin and negative for epithelial membrane antigen (EMA). The karyotype was 78, XX and PCR analysis confirmed the absence of the Y chromosome. Conclusion Based on these findings, a diagnosis of gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour was made. This is the first case of ovarian gonadoblastoma in a female dog.

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PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis

Human Molecular Genetics ◽

10.1093/hmg/3.11.1965 ◽

1994 ◽

Vol 3 (11) ◽

pp. 1965-1967 ◽

Cited By ~ 89

Author(s):

Kazuhiro Kobayashi ◽

Kunihiko Mlzuno ◽

Akiko Hida ◽

Rie Komakl ◽

Keiko Tomita ◽

...

Keyword(s):

Y Chromosome ◽

Pcr Analysis

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MOLECULAR CYTOGENETIC CHARACTERIZATION OF AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2013-0035 ◽

2013 ◽

Vol 16 (2) ◽

pp. 73-76

Author(s):

W. Al-Achkar ◽

A. Wafa ◽

A. Al-Ablog ◽

F. Moassass ◽

T. Liehr

Keyword(s):

Mental Retardation ◽

Y Chromosome ◽

Chromosomal Abnormalities ◽

Pcr Analysis ◽

Fish Analysis ◽

Pericentric Inversions ◽

Cytogenetic Characterization ◽

Human Y Chromosome

ABSTRACT Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversions the risk of mental retardation or multiple abortions is not apparently increased and there is no relation with abnormal phenotypic features. Polymerase chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we present a detailed molecularcytogenetic characterization of a father and his two sons having an inv(Y)(p11. 2q11.221~q11.222) with varying mental retardation features but otherwise normal phenotype

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