FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

Shan, Zhihong; Zabel, Bernhard; Trautmann, Udo; Hillig, U.; Ottolenghi, Chris; Wan, Yan; Haaf, Thomas

doi:10.1038/sj.ejhg.5200431

Cited by 33 publications

(29 citation statements)

References 21 publications

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“…Alterations involving the candidate sex-determining gene DMRT1 are often associated with sex reversal and gonadal dysgenesis (Smith et al, 1999;Shan et al, 2000). Defective testicular development and XY feminization occur when this gene is present in hemizygosis (Shan et al, 2000). Moreover, a great variability in impaired development in male cases of monosomy 9p has been reported, confirming the cryptorchidism and micropenis observed in Patient 1 and Patient 2, respectively.…”

Section: Discussionsupporting

confidence: 59%

“…Deletion of the KANK1 gene causes parent-of-origin-dependent inheritance of familial cerebral palsy that occurs only in individuals inheriting the deletion from the father (Lerer et al, 2005). Alterations involving the candidate sex-determining gene DMRT1 are often associated with sex reversal and gonadal dysgenesis (Smith et al, 1999;Shan et al, 2000). Defective testicular development and XY feminization occur when this gene is present in hemizygosis (Shan et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

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Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Abreu¹,

Brassesco²,

Moreira³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. We report two similarly affected cousins (children of monozygotic twin sisters) with phenotypic features consistent with 9p deletion syndrome, including dysmorphic craniofacial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures and long philtrum), intellectual disability and disorders of sex development. Initial cytogenetic examination showed normal karyotypes in the probands and their respective parents, though multiplex ligation probe amplification revealed a 1q terminal duplication and a 9p terminal deletion in both affected children. Further analysis by fluorescence in situ hybridization, identified a familial balanced cryptic translocation t(1;9)(q44;p23) in the mothers, showing the importance of the association of molecular cytogenetic techniques in clinical genetics, given the implications for the care of patients and for genetic counseling.

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Abreu¹,

Brassesco²,

Moreira³

et al. 2014

Genet. Mol. Res.

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“…Deletion of a chromosome segment containing DMRT1 resulted in sex reversal in humans (Raymond et al 1999a). Furthermore, DMRT1 was found to be expressed in the genital ridge before sex differentiation, specifically in the testis but not in the ovary (De Grandi et al 2000, Shan et al 2000b. Mouse Dmrt1 was also found to be expressed in the genital ridge during the sensitive period of sex determination and its expression was found to persist during the whole process of gonad differentiation.…”

Section: Introductionmentioning

confidence: 83%

“…However, unlike Dmrt1a, which is exclusively expressed in the gonads, Dmrt1b is extensively expressed in other nongonadal tissues including the intestine and kidney of the male fish, indicating that this isoform may have other functions. Some previous reports also demonstrated the expression of Dmrt1 outside the gonad such as in the chicken Mullerian tract (Shan et al 2000b, Smith et al 2003. The Mullerian tract still belongs to the reproductive system, but the intestine and kidney are not part of the reproductive system.…”

Section: Sequence Analysis and Tissue Distribution Of Dmrt1s Foxl2 mentioning

confidence: 98%

Molecular cloning of doublesex and mab-3-related transcription factor 1, forkhead transcription factor gene 2, and two types of cytochrome P450 aromatase in Southern catfish and their possible roles in sex differentiation

Liu¹,

Wu²,

Jiao³

et al. 2007

Journal of Endocrinology

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To address the roles of doublesex and mab-3-related transcription factor 1 (Dmrt1), forkhead transcription factor gene 2 (Foxl2), and aromatase in sex differentiation of Southern catfish, the cDNA sequences of these genes were isolated from the gonads. Dmrt1a and Dmrt1b were found to be expressed in the gonads, being higher in the testis. A low expression level of Dmrt1b was also detected in the intestine and kidney of the male. Foxl2 was found to be expressed extensively in the brain (B), pituitary (P), gill and gonads (G), with the highest level in the ovary, indicating the possible involvement of Foxl2 in the B-P-G axis. Cytochrome P450 (Cyp)19b was found to be expressed in the brain, spleen, and gonads, while Cyp19a was only expressed in the gonads and spleen. All-female Southern catfish fry were treated with fadrozole (F), tamoxifen (TAM), and 17b-estradiol (E 2 ) respectively, from 5 to 25 days after hatching (dah).The expression levels of these genes were measured at 65 dah. In the F-, TAM-, and FCTAM-treated groups, Dmrt1a and Dmrt1b were up-regulated in the gonad, whereas Foxl2 and Cyp19a were down-regulated, while the expression of Cyp19b in the gonad remained unchanged. Furthermore, downregulation of Foxl2 and Cyp19b was also detected in the brain.In the E 2 -treated group, Dmrt1a and Dmrt1b were downregulated to an undetectable level in the gonad, whereas Foxl2 and Cyp19b were up-regulated in the brain. Consistent with the observed changes in the expressions of these genes, 56, 70, and 80% sex-reversed male individuals were obtained in the F-, TAM-, and FCTAM-treated groups respectively. These results indicate the significant roles of Dmrt1, Foxl2, and Cyp19 in the sex differentiation of Southern catfish.

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“…By comparative gene mapping we have recently identified a large segment of conserved chromosomal synteny between the chicken Z and human chromosome 9 (Nanda et al, 1999;. Interestingly, monosomy for the distal short arm of human chromosome 9 interferes with normal testicular development and leads to XY feminization (Flejter et al, 1998;Raymond et al, 1999a;Shan et al, 2000). The critical region for sex reversal has been narrowed down to band 9p24.3 and contains two candidate genes, DMRT1 (Doublesex and Mab-3 related transcription factor 1) and DMRT2, which are expressed in the adult testis.…”

confidence: 99%

Sex-specific expression of an evolutionarily conserved male regulatory gene, <i>DMRT1</i>, in birds

Shan

Nanda

Wang

et al. 2000

Cytogenet Genome Res

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Based on its Z-sex-chromosomal location and its structural homology to male sexual regulatory factors in humans (DMRT1 and DMRT2), Drosophila (Dsx), and Caenorhabditis elegans (Mab-3), chicken DMRT1 is an excellent candidate for a testis-determining factor in birds. The data we present provide further strong support for this hypothesis. By whole mount in situ hybridization chicken DMRT1 is expressed at higher levels in the male than in the female genital ridges during early stages of embryogenesis. Its expression becomes testis-specific after onset of sexual differentiation. Northern blot and RT PCR analysis showed that in adult birds DMRT1 is expressed exclusively in the testis. We propose that two gene dosages are required for testis formation in ZZ males, whereas expression from a single Z chromosome in ZW females leads to female sexual differentiation.

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FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

Cited by 33 publications

References 21 publications

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Molecular cloning of doublesex and mab-3-related transcription factor 1, forkhead transcription factor gene 2, and two types of cytochrome P450 aromatase in Southern catfish and their possible roles in sex differentiation

Sex-specific expression of an evolutionarily conserved male regulatory gene, <i>DMRT1</i>, in birds

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