scispace - formally typeset
Search or ask a question
Author

M. S. Palmer

Bio: M. S. Palmer is an academic researcher from Lincoln's Inn. The author has contributed to research in topics: Y chromosome & Testis determining factor. The author has an hindex of 2, co-authored 2 publications receiving 3198 citations.

Papers
More filters
Journal ArticleDOI
19 Jul 1990-Nature
TL;DR: A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene, termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-d determining gene, TDF.
Abstract: A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. This gene is conserved and Y-specific among a wide range of mammals, and encodes a testis-specific transcript. It shares homology with the mating-type protein, Mc, from the fission yeast Schizosaccharomyces pombe and a conserved DNA-binding motif present in the nuclear high-mobility-group proteins HMG1 and HMG2. This gene has been termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-determining gene, TDF.

3,019 citations

Journal ArticleDOI
01 Dec 1989-Nature
TL;DR: It is found that in 4 XX males lacking ZFY, there is exchange of Y-specific sequences next to the pseudoautosomal boundary, redefining the region in which TDF must lie.
Abstract: IN mammals, the testis determining gene (TDF), present on the Y chromosome, induces the undifferentiated gonads to form testes1. The position of TDF on the human Y chromosome has been defined by analysing the genomes of XX males and XY females2, generated by abnormal genetic exchange between the X and Y chromosomes in male meiosis3. In this way TDF has been localized close to the pseudoautosomal region shared by the sex chromosomes, in the distal Y-specific region. A recently cloned human gene, ZFY, has many features indicating that it is TDF4–6. For example, ZFY encodes a protein with many features of a transcription factor including a domain with multiple 'zinc-finger' motifs4–6. Less consistent with ZFY being TDF, however, is the presence of a very similar gene, ZFX, on the X chromosome4,7, and the presence of a sequence related to ZFY on autosomes in marsupials8. We now report on analysis of XX males lacking ZFY. In these individuals, the male phenotype could be explained by a mutation in a gene 'downstream' of ZFY in the sex-determining hierarchy; but in that case there should be no exchange of material between the X and Y chromosomes. We find on the contrary that in 4 XX males lacking ZFY, there is exchange of Y-specific sequences next to the pseudoautosomal boundary, redefining the region in which TDF must lie.

299 citations


Cited by
More filters
Journal ArticleDOI
19 Jul 1990-Nature
TL;DR: A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene, termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-d determining gene, TDF.
Abstract: A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. This gene is conserved and Y-specific among a wide range of mammals, and encodes a testis-specific transcript. It shares homology with the mating-type protein, Mc, from the fission yeast Schizosaccharomyces pombe and a conserved DNA-binding motif present in the nuclear high-mobility-group proteins HMG1 and HMG2. This gene has been termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-determining gene, TDF.

3,019 citations

Journal ArticleDOI
09 May 1991-Nature
TL;DR: It is shown that Sry on a 14-kilobase genomic DNA fragment is sufficient to induce testis differentiation and subsequent male development when introduced into chromosomally female mouse embryos.
Abstract: The initiation of male development in mammals requires one or more genes on the Y chromosome. A recently isolated gene, termed SRY in humans and Sry in mouse, has many of the genetic and biological properties expected of a Y-located testis-determining gene. It is now shown that Sry on a 14-kilobase genomic DNA fragment is sufficient to induce testis differentiation and subsequent male development when introduced into chromosomally female mouse embryos.

2,070 citations

Journal ArticleDOI
19 Jul 1990-Nature
TL;DR: A gene mapping to the sex-determining region of the mouse Y chromosome is deleted in a line of XY female mice mutant for Tdy, and is expressed at a stage during male gonadal development consistent with its having a role in testis determination.
Abstract: A gene mapping to the sex-determining region of the mouse Y chromosome is deleted in a line of XY female mice mutant for Tdy, and is expressed at a stage during male gonadal development consistent with its having a role in testis determination. This gene is a member of a new family of at least five mouse genes, related by an amino-acid motif showing homology to other known or putative DNA-binding domains.

1,604 citations

Journal ArticleDOI
08 Dec 1994-Nature
TL;DR: Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
Abstract: Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.

1,495 citations

Journal ArticleDOI
16 Dec 1994-Cell
TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.

1,474 citations