Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
16
pubmed:dateCreated
1996-9-12
pubmed:abstractText
The condition termed 46,XY complete gonadal dysgenesis is characterized by a completely female phenotype and streak gonads. In contrast, subjects with 46,XY partial gonadal dysgenesis and those with embryonic testicular regression sequence usually present ambiguous genitalia and a mix of Müllerian and Wolffian structures. In 46,XY partial gonadal dysgenesis gonadal histology shows evidence of incomplete testis determination. In 46,XY embryonic testicular regression sequence there is lack of gonadal tissue on both sides. Various lines of evidence suggest that embryonic testicular regression sequence is a variant form of 46,XY gonadal dysgenesis. The sex-determining region Y chromosome gene (SRY) encodes sequences for the testis-determining factor. To date germ-line mutations in SRY have been reported in approximately 20% of subjects with 46,XY complete gonadal dysgenesis. However, no germ-line mutations of SRY have been reported in subjects with the partial forms. We studied 20 subjects who presented either 46,XY partial gonadal dysgenesis or 46,XY embryonic testicular regression sequence. We examined the SRY gene and the minimum region of Y-specific DNA known to confer a male phenotype. The SRY-open reading frame (ORF) was normal in all subjects. However a de novo interstitial deletion 3' to the SRY-ORF was found in one subject. Although it is possible that the deletion was unrelated to the subject's phenotype, we propose that the deletion was responsible for the abnormal gonadal development by diminishing expression of SRY. We suggest that the deletion resulted either in the loss of sequences necessary for normal SRY expression or in a position effect that altered SRY expression. This case provides further evidence that deletions of the Y chromosome outside the SRY-ORF can result in either complete or incomplete sex reversal.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1339396, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1415266, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1438307, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1485186, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1655284, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1695712, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1782876, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-1956279, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2247149, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2247151, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2325773, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2594087, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2846258, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2900761, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2989708, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-2990828, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-3690661, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-3737404, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-6444175, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-6663259, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-7776083, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-7951319, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-7990924, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8132626, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8172233, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8244390, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8275095, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8353496, http://linkedlifedata.com/resource/pubmed/commentcorrection/8710915-8447323
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
6
pubmed:volume
93
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
8590-4
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:8710915-Base Sequence, pubmed-meshheading:8710915-Chromosome Mapping, pubmed-meshheading:8710915-DNA Primers, pubmed-meshheading:8710915-DNA-Binding Proteins, pubmed-meshheading:8710915-Female, pubmed-meshheading:8710915-Genes, pubmed-meshheading:8710915-Gonadal Dysgenesis, pubmed-meshheading:8710915-Humans, pubmed-meshheading:8710915-Male, pubmed-meshheading:8710915-Molecular Sequence Data, pubmed-meshheading:8710915-Mutation, pubmed-meshheading:8710915-Nuclear Proteins, pubmed-meshheading:8710915-Regulatory Sequences, Nucleic Acid, pubmed-meshheading:8710915-Sequence Deletion, pubmed-meshheading:8710915-Sex Chromosome Aberrations, pubmed-meshheading:8710915-Sex-Determining Region Y Protein, pubmed-meshheading:8710915-Testis, pubmed-meshheading:8710915-Transcription Factors
pubmed:year
1996
pubmed:articleTitle
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
pubmed:affiliation
Institut Pasteur, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't