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Literature DB >> 8782045

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

C Kwok¹, C Tyler-Smith, B B Mendonca, I Hughes, G D Berkovitz, P N Goodfellow, J R Hawkins.

Abstract

Mutations in the Y linked testis determining gene SRY cause 46,XY sex reversal. However, only about 15% of cases of 46,XY sex reversal are accounted for by mutations in SRY. In this study we have investigated the possibility that mutations affecting the expression of SRY might cause some of the cases of sex reversal in which the coding sequence of SRY is normal. We have screened 2 kb of DNA immediately 5' to the SRY coding sequence in 49 subjects with varying degrees of 46,XY sex reversal. Two variant bases were identified, one of which was determined to be a polymorphism and the other is unique, but familial.

Entities: Gene

Mesh：

Substances：

Year: 1996 PMID： 8782045 PMCID： PMC1050631 DOI： 10.1136/jmg.33.6.465

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

24 in total

1. XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Authors: K McElreavy; E Vilain; N Abbas; J M Costa; N Souleyreau; K Kucheria; C Boucekkine; E Thibaud; R Brauner; F Flamant
Journal: Proc Natl Acad Sci U S A Date: 1992-11-15 Impact factor: 11.205

2. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Authors: E Vilain; K McElreavey; F Jaubert; J P Raymond; F Richaud; M Fellous
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

3. Genetics of XY sex reversal.

Authors: J R Hawkins
Journal: J Endocrinol Date: 1995-11 Impact factor: 4.286

4. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.

Authors: V C Sheffield; J S Beck; A E Kwitek; D W Sandstrom; E M Stone
Journal: Genomics Date: 1993-05 Impact factor: 5.736

5. Genetic evidence equating SRY and the testis-determining factor.

Authors: P Berta; J R Hawkins; A H Sinclair; A Taylor; B L Griffiths; P N Goodfellow; M Fellous
Journal: Nature Date: 1990-11-29 Impact factor: 49.962

6. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.

Authors: G D Berkovitz; P Y Fechner; H W Zacur; J A Rock; H M Snyder; C J Migeon; E J Perlman
Journal: Medicine (Baltimore) Date: 1991-11 Impact factor: 1.889

7. Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.

Authors: H Su; Y F Lau
Journal: Am J Hum Genet Date: 1993-01 Impact factor: 11.025

8. A familial mutation in the testis-determining gene SRY shared by both sexes.

Authors: R J Jäger; V R Harley; R A Pfeiffer; P N Goodfellow; G Scherer
Journal: Hum Genet Date: 1992-12 Impact factor: 4.132

9. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

Authors: J R Hawkins; A Taylor; P N Goodfellow; C J Migeon; K D Smith; G D Berkovitz
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

10. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.

Authors: A H Sinclair; P Berta; M S Palmer; J R Hawkins; B L Griffiths; M J Smith; J W Foster; A M Frischauf; R Lovell-Badge; P N Goodfellow
Journal: Nature Date: 1990-07-19 Impact factor: 49.962

16 in total

1. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.

Authors: H N Lim; G D Berkovitz; I A Hughes; J R Hawkins
Journal: Hum Genet Date: 2000-11-14 Impact factor: 4.132

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

1. XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

2. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

3. Genetics of XY sex reversal.

4. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.

5. Genetic evidence equating SRY and the testis-determining factor.

6. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.

7. Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.

8. A familial mutation in the testis-determining gene SRY shared by both sexes.

9. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

10. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.

1. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.

2. Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays.

3. Y-chromosomal DNA variation in Pakistan.

4. Relationship between Y-chromosomal DNA haplotype and sperm count in Italy.

5. The origin of the isolated population of the Faroe Islands investigated using Y chromosomal markers.

6. Y chromosomal evidence for the origins of oceanic-speaking peoples.

7. A short tandem repeat-based phylogeny for the human Y chromosome.

8. European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.

9. Transmission of a fully functional human neocentromere through three generations.

10. Y-haplotypes and idiopathic male infertility in an Indian population.