Multiple alternative splicing of mouse Dmrt1 during gonadal differentiation

Lu, Hailiang; Huang, Xiao; Liao, Zaiyi; Guo, Yiqing; Cheng, Hanhua; Zhou, Rongjia

doi:10.1016/j.bbrc.2006.11.066

Cited by 24 publications

(28 citation statements)

References 19 publications

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“…In mice, alternative splicing processes were detected in adult testis and in undifferentiated gonads. All forms are produced with a similar pattern of expression peaking at 13.5 days after fertilization and maintaining a baseline pattern of expression in male gonads (16). These experiments indicate an important role of this gene in the testicular determination and differentiation in mammals.…”

Section: Discussionmentioning

confidence: 56%

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Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

Mello

Coeli

Assumpção

et al. 2010

Arq Bras Endocrinol Metab

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The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.

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Section: Discussionmentioning

confidence: 56%

“…Therefore, deletions and mutations on 9p and DMRT1 gene, respectively, were investigated. Recent studies on DMRT1 gene have shown a very complex pattern of expression in male gonads involving the production of alternative transcripts in both mice and humans (15,16). Cheng and cols.…”

Section: Discussionmentioning

confidence: 99%

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

Mello

Coeli

Assumpção

et al. 2010

Arq Bras Endocrinol Metab

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show abstract

“…Like the fly Doublesex and the nematode Mab-3, some of the vertebrates Dmrt1 transcripts share a common 5′ end but are alternatively spliced at the 3′ exons, which produces multiple isoforms in gonads Lu et al 2007;Sreenivasulu et al 2002;Zhao et al 2007). In this Fig.…”

Section: Discussionmentioning

confidence: 90%

“…Both Doublesex and Mab-3 genes are required for the male sexual development, and directly inhibit the vitellogenin transcription (Yi and Zarkower 1999). In vertebrates, Dmrt genes have been identified in a wide range of species including mammals, birds, reptiles, amphibians, and teleosts (Aoyama et al 2003;De Grandi et al 2000;Lu et al 2007;Marchand et al 2000;Raymond et al 1999a). Like Doublesex and Mab-3, vertebrate Dmrt1 is revealed to play a conserved role(s) in male sex determination and differentiation (Kettlewell et al 2000;Matsushita et al 2007).…”

Section: Introductionmentioning

confidence: 97%

A novel Dmrt gene is specifically expressed in the testis of Chinese mitten crab, Eriocheir sinensis

Zhang

Qiu

2010

Dev Genes Evol

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Dmrt is a family of genes related to the sexual regulators Doublesex of Drosophila melanogaster and Mab-3 of Caenorhabditis elegans. Dmrt genes are widely conserved and known for their involvement in sex determination and differentiation across phyla. In this study, we report here the identification of a novel Dmrt gene, named EsDmrt-like, from Chinese mitten crab Eriocheir sinensis. EsDmrt-like encodes a protein of 236 amino acids without intron. The protein contains a conserved DNA-binding DM domain that is characteristic of Dmrt genes. The DM domain shares 98% identity with that of Drosophila Dmrt99B and vertebrate Dmrt5, but outside the DM domain, there is little homology in sequence and no other conserved domain such as DMA specific to the Dmrt99B and Dmrt3-5. Interestingly, the expression pattern of EsDmrt-like is quite similar with that of vertebrate Dmrt1. Reverse transcription-polymerase chain reaction showed that EsDmrt-like transcripts were detectable only in testis with much higher expression at immature stage. In situ hybridization to gonad sections indicated that the EsDmrt-like mRNA was exclusively localized in Sertoli cells around the periphery of seminiferous tubules and developing germ cells including spermatogonium, spermatocyte, and spermatid, but absent in spermatozoa. This finding strongly suggests an essential role for EsDmrt-like in the male testicular development/differentiation of the crab.

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“…Many sex-determination genes, including Sry (sex-determination region of chromosome Y), 1) Sox9 (SRY box-containing gene 9), 2) Dmrt1 (Doublesex and mab3-related transcription factor 1) and Dmrt2 (Doublesex and mab3-related transcription factor 2), 3) Foxl2 (forkhead box L2), 4) Rspo1 (R-spondin1), and β-catenin, 5) have been implicated in sexual determination. Dmrt genes have been identified in species such as mammals, 6) birds, 7) amphibians, 8) and teleosts. 9) However, Sry genes have not been identified in non-mammalian vertebrates.…”

Section: De Novo Transcriptome Sequencing To Identify the Sex-determimentioning

confidence: 99%