The Experts below are selected from a list of 6102 Experts worldwide ranked by ideXlab platform
Kenji Fujieda - One of the best experts on this subject based on the ideXlab platform.
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A novel missense mutation in the HMG box region of the SRY Gene in a Japanese patient with an XY sex reversal.
Journal of human genetics, 2000Co-Authors: Koji Okuhara, Toshihiro Tajima, Jun Nakae, Kenji FujiedaAbstract:The sex-determining region of the Y chromosome, the SRY Gene, located on the short arm of the Y chromosome, is appreciated as one of the Genes that is responsible for directing the process of sex differentiation. To date, 34 different mutations, including 29 missense and nonsense mutations in the SRY Gene, have been described in XY female patients. We investigated the molecular basis of the sex reversal in one Japanese XY female patient by determining the nucleotide sequence of the SRY Gene, using polymerase chain reaction and direct sequencing. We identified a novel mutation, of the substitution of Tyr for Asn at nucleotide position 87 (N87Y). This Asn residue is located within the DNA-binding high-mobility-group (HMG) motif, which is considered to be the main functional domain of the SRY protein. Further, this amino acid, Asn, is a conserved residue among mammalian SRY Genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient.
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A NEW POINT MUTATION OF SRY Gene IN TWO SISTERS WITH 46 XY GONADAL DYSGeneSIS
Pediatric Research, 1993Co-Authors: Toshihiro Tajima, Nozomi Shinohara, Jun Nakae, Kenji FujiedaAbstract:The sex determining region of Y(SRY) is required for the male sex determination. Recently several mutations of SRY Gene have been identified in 46XY gonadal dysGenesis(GD). All mutations reported so far are located within the putative DNA binding motif known as HMG box domain. We investigated SRY Gene of four sporadic cases and two sisters in one family with 46XY GD by polymerase chain reaction and single strand conformation polymorphism and subsequent DNA direct sequencing. Four sporadic cases did not show any mutations in SRY Gene, while two sisters in one family shared the same one base mutation T to A, which exists out of the putative DNA binding motif region of SRY Gene. By this mutation, a codon TTG(Leucine) changes a stop codon TAG. Generation of this stop codon would be expected to make a truncated nonfunctional SRY Gene products, and affect DNA binding activity, resulting in 46,XY GD.
David W. Silversides - One of the best experts on this subject based on the ideXlab platform.
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Porcine SRY Gene Locus and Genital Ridge Expression
Biology of reproduction, 1996Co-Authors: Isabelle Daneau, J F Ethier, Jacques G. Lussier, David W. SilversidesAbstract:Porcine SRY Gene locus was cloned through use of a strategy of anchored polymerase chain reaction (PCR) amplification from a male pig genomic DNA size-selected library constructed in a plasmid vector as well as 3' reverse transcription (RT)-PCR amplification of porcine genital ridge SRY transcripts. In total, 1664 bp of genomic DNA and 106 bp of 3' cDNA are presented. The open reading frame of porcine SRY consists of 624 bp representing 208 amino acids (aa) with a centrally located HMG box domain of 79 aa, an amino-terminal region of 59 aa, and a carboxy terminal of 70 aa. Structurally, porcine SRY resembles human and bovine SRY more closely than it does mouse SRY, and it lacks the carboxy-terminal activation domain seen in the mouse SRY molecule. Similar to human and bovine testicular SRY transcripts, the porcine SRY genital ridge transcript has a relatively short 3' untranslated region (UTR), in contrast to the extended UTR of the mouse genital ridge SRY transcript. The porcine SRY Gene is expressed within the cells of the genital ridge of the developing male pig embryo between Days 21 and 26 (e21-e26) of gestation, during which time the primitive gonads are bipotential, but not on Day e31, by which time male testis determination is histologically evident.
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Bovine SRY Gene Locus: Cloning and Testicular Expression
Biology of reproduction, 1995Co-Authors: Isabelle Daneau, A. Houde, J F Ethier, Jacques G. Lussier, David W. SilversidesAbstract:The bovine SRY Gene was cloned by a combination of anchored polymerase chain reaction (PCR) amplification of genomic restriction fragments and reverse transcription-PCR (RT-PCR) of testicular RNA. We report 1800 bp of combined genomic and cDNA sequences including 911 bp of 5' upstream sequences, an open reading frame of 687 bp, and 202 bp of sequences corresponding to the 3' end of the mRNA. The bovine SRY Gene encodes a deduced (predicted on the basis of a cDNA sequence) protein product of 229 amino acids, with sequence conservation between species, notably in the region of the high-mobility group (HMG) domain or HMG box. Outside of the HMG box, the bovine SRY structure shows greater resemblance to the human SRY than to the mouse SRY. As with human SRY promoter sequences, putative binding sites for Spl and for SRY itself are seen in the bovine SRY promoter region. Unlike the human SRY promotor, CAAT and TATA box motifs are present in the bovine sequences. Southern analysis and PCR amplification of male and female bovine genomic DNA show that the described sequences are specific to the Y chromosome. Northern analysis of bull testicular RNA demonstrated low levels of expression of the bovine SRY Gene in adult testes with a major poly(A) species at 1.9 kb. RT-PCR amplification of bull testicular RNA revealed multiple sites of polyadenylation, but sequencing showed no consensus polyadenylation signal.
Toshihiro Tajima - One of the best experts on this subject based on the ideXlab platform.
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A novel missense mutation in the HMG box region of the SRY Gene in a Japanese patient with an XY sex reversal.
Journal of human genetics, 2000Co-Authors: Koji Okuhara, Toshihiro Tajima, Jun Nakae, Kenji FujiedaAbstract:The sex-determining region of the Y chromosome, the SRY Gene, located on the short arm of the Y chromosome, is appreciated as one of the Genes that is responsible for directing the process of sex differentiation. To date, 34 different mutations, including 29 missense and nonsense mutations in the SRY Gene, have been described in XY female patients. We investigated the molecular basis of the sex reversal in one Japanese XY female patient by determining the nucleotide sequence of the SRY Gene, using polymerase chain reaction and direct sequencing. We identified a novel mutation, of the substitution of Tyr for Asn at nucleotide position 87 (N87Y). This Asn residue is located within the DNA-binding high-mobility-group (HMG) motif, which is considered to be the main functional domain of the SRY protein. Further, this amino acid, Asn, is a conserved residue among mammalian SRY Genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient.
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A NEW POINT MUTATION OF SRY Gene IN TWO SISTERS WITH 46 XY GONADAL DYSGeneSIS
Pediatric Research, 1993Co-Authors: Toshihiro Tajima, Nozomi Shinohara, Jun Nakae, Kenji FujiedaAbstract:The sex determining region of Y(SRY) is required for the male sex determination. Recently several mutations of SRY Gene have been identified in 46XY gonadal dysGenesis(GD). All mutations reported so far are located within the putative DNA binding motif known as HMG box domain. We investigated SRY Gene of four sporadic cases and two sisters in one family with 46XY GD by polymerase chain reaction and single strand conformation polymorphism and subsequent DNA direct sequencing. Four sporadic cases did not show any mutations in SRY Gene, while two sisters in one family shared the same one base mutation T to A, which exists out of the putative DNA binding motif region of SRY Gene. By this mutation, a codon TTG(Leucine) changes a stop codon TAG. Generation of this stop codon would be expected to make a truncated nonfunctional SRY Gene products, and affect DNA binding activity, resulting in 46,XY GD.
Giovanni Corsello - One of the best experts on this subject based on the ideXlab platform.
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Identification of a new nonsense mutation (Tyr129Stop) of the SRY Gene in a newborn infant with XY sex-reversal.
American journal of medical genetics. Part A, 2004Co-Authors: Mario Giuffrè, Piero Sammarco, Carmelo Fabiano, Fabio Giardina, Fabio Lunetta, Giovanni CorselloAbstract:Point mutations and deletions of SRY Gene have been described in several cases of XY gonadal dysGenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY Gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the putative DNA binding activity of the HMG-box domain.
Jun Nakae - One of the best experts on this subject based on the ideXlab platform.
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A novel missense mutation in the HMG box region of the SRY Gene in a Japanese patient with an XY sex reversal.
Journal of human genetics, 2000Co-Authors: Koji Okuhara, Toshihiro Tajima, Jun Nakae, Kenji FujiedaAbstract:The sex-determining region of the Y chromosome, the SRY Gene, located on the short arm of the Y chromosome, is appreciated as one of the Genes that is responsible for directing the process of sex differentiation. To date, 34 different mutations, including 29 missense and nonsense mutations in the SRY Gene, have been described in XY female patients. We investigated the molecular basis of the sex reversal in one Japanese XY female patient by determining the nucleotide sequence of the SRY Gene, using polymerase chain reaction and direct sequencing. We identified a novel mutation, of the substitution of Tyr for Asn at nucleotide position 87 (N87Y). This Asn residue is located within the DNA-binding high-mobility-group (HMG) motif, which is considered to be the main functional domain of the SRY protein. Further, this amino acid, Asn, is a conserved residue among mammalian SRY Genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient.
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A NEW POINT MUTATION OF SRY Gene IN TWO SISTERS WITH 46 XY GONADAL DYSGeneSIS
Pediatric Research, 1993Co-Authors: Toshihiro Tajima, Nozomi Shinohara, Jun Nakae, Kenji FujiedaAbstract:The sex determining region of Y(SRY) is required for the male sex determination. Recently several mutations of SRY Gene have been identified in 46XY gonadal dysGenesis(GD). All mutations reported so far are located within the putative DNA binding motif known as HMG box domain. We investigated SRY Gene of four sporadic cases and two sisters in one family with 46XY GD by polymerase chain reaction and single strand conformation polymorphism and subsequent DNA direct sequencing. Four sporadic cases did not show any mutations in SRY Gene, while two sisters in one family shared the same one base mutation T to A, which exists out of the putative DNA binding motif region of SRY Gene. By this mutation, a codon TTG(Leucine) changes a stop codon TAG. Generation of this stop codon would be expected to make a truncated nonfunctional SRY Gene products, and affect DNA binding activity, resulting in 46,XY GD.
