Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness

Weil, Dominique; Wang, Iréne; Dietrich, Alexander; Poustka, Annemarie; Weissenbach, Jean; Petit, Christine

doi:10.1038/ng0794-414

Cited by 54 publications

(26 citation statements)

References 38 publications

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“…This confirms that XX male results from a Y-chromosome fragment transferred to the X-chromosome short arm by unequal interchange between homologous regions in the short arms of the sex chromosomes during paternal meiotic division [5,11]. This Y fragment would be a carrier of testicular determinants and would give male sexual characteristics to apparently XX subjects.…”

Section: Discussionsupporting

confidence: 59%

Localization of the Sex-Determining Region-Y Gene in Xx Males

Suzuki

Sasagawa²,

Yazawa³

et al. 2000

Archives of Andrology

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Section: Discussionsupporting

confidence: 59%

Localization of the Sex-Determining Region-Y Gene in Xx Males

Suzuki

Sasagawa²,

Yazawa³

et al. 2000

Archives of Andrology

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“…The sequence similarity between these genes is 94%. The PRKY gene is approximately 7 Mb away from the obligatory recombination region, PAR1 [Weil et al 1994;Schiebel et al 1997]. As a result of that recombination, the individuals have male sexual characteristics because of the presence of SRY gene on the X chromosome despite the XX sex chromosome pattern.…”

Section: Resultsmentioning

confidence: 99%

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

Güneş

Aşçı

Ökten

et al. 2012

Systems Biology in Reproductive Medicine

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The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

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“…Most 46,XX testicular DSD males arise from translocations of parts of the short arm of the Y chromosome to one of the X chromosomes (67,68). Translocations of a DNA segment that contains the testisdetermining gene SRY from the Y to the X chromosome takes place during paternal meiosis (69). The presence of the SRY gene is sufficient to cause the initially indifferent gonad to develop into a testis.…”

Section: Klinefelter Syndromementioning

confidence: 99%

“…When SRY is translocated to another chromosome or when fertility is preserved, sex-limited autosomal dominant inheritance is observed (69,74).…”

Section: Klinefelter Syndromementioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Röpke

Tüttelmann

2017

European Journal of Endocrinology

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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo-or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the maleassociated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.

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Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness

Cited by 54 publications

References 38 publications

Localization of the Sex-Determining Region-Y Gene in Xx Males

Localization of the Sex-Determining Region-Y Gene in Xx Males

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

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