Evidence that the SRY protein is encoded by a sing...[Genomics. 1993]

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1: Genomics. 1993 Sep;17(3):736-9. Links

Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

Behlke MA, Bogan JS, Beer-Romero P, Page DC.

Howard Hughes Research Laboratories, Whitehead Institute, Cambridge, Massachusetts.

To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open reading frame (ORF). Analysis of the SRY transcript using 3' and 5' rapid amplification and cloning of ends suggested that the entire SRY protein is encoded by a single exon. A 700-bp CpG island is located immediately 5' of the pseudogene (and 2 kb 5' of the SRY ORF). Within this CpG island lies the sequence CGCCCCGC, a potential binding site for the EGR-1/WT1 family of transcription factors, some of which appear to function in gonadal development.

PMID: 8244390 [PubMed - indexed for MEDLINE]

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
Hum Genet. 1997 May; 99(5):648-52.

[Hum Genet. 1997]
Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Braz J Med Biol Res. 2005 Jan; 38(1):17-25. Epub 2005 Jan 18.

[Braz J Med Biol Res. 2005]
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
Proc Natl Acad Sci U S A. 1996 Aug 6; 93(16):8590-4.

[Proc Natl Acad Sci U S A. 1996]
ReviewThe biochemical role of SRY in sex determination.
Mol Reprod Dev. 1994 Oct; 39(2):184-93.

[Mol Reprod Dev. 1994]
ReviewHuman chromosome Y and SRY.
Cell Biol Int. 1996 Jan; 20(1):3-6.

[Cell Biol Int. 1996]
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Cited by 5 PubMed Central articles

ReviewSOX genes: architects of development.
Prior HM, Walter MA. Mol Med. 1996 Jul; 2(4):405-12.

[Mol Med. 1996]
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
Kwok C, Tyler-Smith C, Mendonca BB, Hughes I, Berkovitz GD, Goodfellow PN, Hawkins JR. J Med Genet. 1996 Jun; 33(6):465-8.

[J Med Genet. 1996]
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, et al. Proc Natl Acad Sci U S A. 1996 Aug 6; 93(16):8590-4.

[Proc Natl Acad Sci U S A. 1996]
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Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

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Cited by 5 PubMed Central articles

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