title: SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.
abstract: We report three patients with XY pure gonadal dysgenesis. Two of these patients developed gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to investigate the relationship between the formation of these tumors and Y chromosome aberrations. Deletion analyses were performed by polymerase chain reaction (PCR) amplification of Y chromosome-specific DNA sequences (PABY, SRY, DYS250, DYS254, and DYZ1). A cryptic deletion of the short arm of the Y chromosome that included the PABY, SRY, DYS250, and DYS254 loci was observed in one of the patients (22-years-old) with an associated tumor. In the other two patients who did not demonstrate such a deletion, the sequence of the SRY open reading frame was determined by the dideoxynucleotide method. Two nucleotide substitutions followed by a seven nucleotide deletion were observed in the 3' end of HMG (high mobility group)-box in the other patient (15-years-old) with an associated tumor. The patient (22-years-old) without an associated tumor did not have the cryptic deletion or mutation of SRY. A Y chromosome specific sequence (DYZ1) was demonstrated by PCR amplification of microdissected tumor tissues from these two patients. These results suggest that SRY may play a role in the formation of gonadal tumors, especially dysgerminoma.
authors.affiliation: Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Uehara
authors.forename: T
authors.initials: T
authors.lastname: Funato
authors.forename: N
authors.initials: N
authors.lastname: Yaegashi
authors.forename: H
authors.initials: H
authors.lastname: Suziki
authors.forename: J
authors.initials: J
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: A
authors.initials: A
authors.lastname: Yajima
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002871:Chromosome Banding; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development; D004407:Dysgerminoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D018238:Gonadoblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010051:Ovarian Neoplasms / Q000150:complications / Q000235:genetics*; D017422:Sequence Analysis, DNA; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors