Search Results - "Racca, Joseph"
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Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY
Published in The Journal of biological chemistry (01-09-2024)“…Y-chromosome–encoded master transcription factor SRY functions in the embryogenesis of therian mammals to initiate male development. Through interactions of…”
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Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity
Published in Frontiers in endocrinology (Lausanne) (26-07-2022)“…Male sex determination in mammals is initiated by SRY, a Y-encoded transcription factor. The protein contains a high-mobility-group (HMG) box mediating…”
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Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity
Published in Frontiers in endocrinology (Lausanne) (02-12-2022)“…Y-encoded transcription factor SRY initiates male differentiation in therian mammals. This factor contains a high-mobility-group (HMG) box, which mediates…”
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Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR
Published in The Journal of biological chemistry (14-10-2016)“…A general problem is posed by analysis of transcriptional thresholds governing cell fate decisions in metazoan development. A model is provided by testis…”
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Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold
Published in Proceedings of the National Academy of Sciences - PNAS (17-09-2013)“…Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic…”
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Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box
Published in The Journal of biological chemistry (21-11-2014)“…Human testis determination is initiated by SRY, a Y-encoded architectural transcription factor. Mutations in SRY cause 46 XY gonadal dysgenesis with female…”
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Microsatellite-encoded domain in rodent Sry functions as a genetic capacitor to enable the rapid evolution of biological novelty
Published in Proceedings of the National Academy of Sciences - PNAS (13-08-2013)“…The male program of therian mammals is determined by Sry, a transcription factor encoded by the Y chromosome. Specific DNA binding is mediated by a high…”
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Structures of Eukaryotic Ribonucleotide Reductase I Provide Insights into dNTP Regulation
Published in Proceedings of the National Academy of Sciences - PNAS (14-03-2006)“…Ribonucleotide reductase catalyzes a crucial step in de novo DNA synthesis and is allosterically controlled by relative levels of dNTPs to maintain a balanced…”
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Structures of Eukaryotic Ribonucleotide Reductase I Define Gemcitabine Diphosphate Binding and Subunit Assembly
Published in Proceedings of the National Academy of Sciences - PNAS (14-03-2006)“…Ribonucleotide reductase (RNR) catalyzes the conversion of nucleoside diphosphates to deoxynucleoside diphosphates. Crucial for rapidly dividing cells, RNR is…”
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Human Sex Determination at the Edge of Ambiguity: Biophysical Studies of Clinical Mutations in a Master Transcription Factor
Published in Biophysical journal (03-02-2017)Get full text
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Human Sex Determination at the Edge of Ambiguity
Published in The Journal of biological chemistry (01-10-2016)“…A general problem is posed by analysis of transcriptional thresholds governing cell fate decisions in metazoan development. A model is provided by testis…”
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Inherited Human XY Sex Reversal and Gonadal Neoplasia Due to Enhanced Formation of Non-Specific Enhanceosomes by an Architectural Transcription Factor
Published in Journal of the Endocrine Society (03-05-2021)“…The development of organisms is regulated by a fine-tuned gene-regulatory network, which is driven by transcription factors (TFs). In the embryogenesis, these…”
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OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program
Published in Journal of the Endocrine Society (30-04-2019)“…A paradox is posed by metazoan gene-regulatory networks (GRNs) that are robust yet evolvable. Insight may be obtained through studies of bistable genetic…”
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Structure-Function Relationships in Human Testis-determining Factor SRY
Published in The Journal of biological chemistry (21-11-2014)“…Human testis determination is initiated by SRY, a Y-encoded architectural transcription factor. Mutations in SRY cause 46 XY gonadal dysgenesis with female…”
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Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex
Published in The Journal of biological chemistry (21-10-2011)“…Mammalian testis-determining factor SRY contains a high mobility group box, a conserved eukaryotic motif of DNA bending. Mutations in SRY cause XY gonadal…”
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SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation
Published in Journal of the Endocrine Society (08-05-2020)“…Context: SRY, an architectural transcription factor containing a SOX-related high-mobility group (HMG) box, initiates testis formation in the mammalian…”
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Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal
Published in The Journal of biological chemistry (21-10-2011)“…Mammalian testis-determining factor SRY contains a high mobility group box, a conserved eukaryotic motif of DNA bending. Mutations in SRY cause XY gonadal…”
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"Experiments of Nature": Structure-function Studies of an Architectural Transcription Factor: Application to Male Sex Determination
Published 01-01-2015“…Mutations associated with disease states or developmental abnormalities can be exploited as “nature-guided” probes of structure and function. These studies are…”
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