Sex determination and gonadal differentiation in man

Boczkowski, K

doi:10.1111/j.1399-0004.1971.tb00300.x

Cited by 23 publications

(2 citation statements)

References 19 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The heritable nature of 46,XY DSD was identified in the 1970s. [13][14][15] These studies anticipated sex-limited transmission of an autosomal-dominant or X-linked trait from parents with the nonpenetrant genotype (46,XX) to those with the penetrant genotype (46,XY), accounting for the obvious lack of reproductive fitness. Most of these families were lost to follow-up, but one was recruited in the 1990s for future linkage and positional cloning studies and is reported here.…”

mentioning

confidence: 99%

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Pearlman

Loke

Caignec

et al. 2010

The American Journal of Human Genetics

167

140

View full text Add to dashboard Cite

Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LOD score of 6.21. A splice-acceptor mutation (c.634-8T>A) in MAP3K1 segregated with the phenotype in the first family and disrupted RNA splicing. Mutations were demonstrated in the second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)-18% prevalence in this cohort of sporadic cases. In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex. Map3k1 within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in MAP3K1 that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.

show abstract

mentioning

confidence: 99%

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Pearlman

Loke

Caignec

et al. 2010

The American Journal of Human Genetics

167

140

View full text Add to dashboard Cite

show abstract

“…It was postulated, therefore, that both the gonadal and somatic abnormalities in Turner syndrome have a common pathogenesis, with the defect in the tissues of mesodermal origin, bones, connective tissue and somatic cells of the gonads (Boczkowski 1973). The genetical information of two sex chromosomes XX or XY, or of the heterochromatic X or Y seems to be necessary for processes basically important for the proper development and function of tissues of mesodermal origin.…”

Section: Discussionmentioning

confidence: 99%

Turner syndrome with rare karyotypes

1978

View full text Add to dashboard Cite

show abstract

Ultrastructure of the early ovary and testis in pig embryos

Pelliniemi

1975

Am. J. Anat.

View full text Add to dashboard Cite

Pig embryos aged 26-27 days were used for an ultrastructural study of the early ovary and testis. Sex was identified by both chromosomal analysis and gonadal histology, with consistent results. The gonads occupied their original site in the medial coelomic angles in both sexes. The female gonad was composed of three tissues: the surface epithelium, the gonadal blastema and the mesenchyme. The gonadal structure was similar to that seen earlier at the age of 24 days. At 26 days the testis had distinctly differentiated into four tissues. The new components were the testicular cords and the interstitium, both derived from the gonadal blastema. The testicular cords resembled anastomosing sheets more than cords. The ultrastructure of the tissues and their cell types are described and compared to the previous indifferent stage at the age of 24 days. The cells of the surface epithelium, of the primitive cords, of the mesenchyme, and the primordial germ cells had an ultrastructure that was similar in both sexes. The sustentacular cells of the testicular cords resembled the primitive cord cells and the spermatogonia were similar to the primordial germ cells. No Leydig cells were present yet. The process of testicular differentiation is described on the basis of the present and a previous study, and a new hypothesis, based on the vascular organization, is presented.

show abstract

Sex determination and gonadal differentiation in man

Cited by 23 publications

References 19 publications

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Turner syndrome with rare karyotypes

Ultrastructure of the early ovary and testis in pig embryos

Contact Info

Product

Resources

About