Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Ogata, Tsutomu; Tyler‐Smith, Chris; Purvis‐Smith, Stuart; Turner, Gillian

doi:10.1136/jmg.30.11.918

Cited by 38 publications

(18 citation statements)

References 35 publications

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“…Differences in phenotype could be due to variation in the amount of 45,X cells. However, the individual described by Wegner et al [4] also lacked sequences from the short arm of the Y chromosome including those that encode the putative anti-Turner gene on the Y chromosome [15, 16, 17]. …”

Section: Discussionmentioning

confidence: 99%

Molecular Investigation of Two Male Subjects with Short Stature and a 45,X/46,X,Ring(Y) Karyotype

Sher¹,

Addelston²,

Plotnick³

et al. 1997

Horm Res Paediatr

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We studied 2 subjects with a 45,X/46,X,ring(Y) karyotype. Both of them were evaluated because of short stature and a subnormal rate of linear growth. One patient had additional features of the Ullrich-Turner syndrome. Both subjects had normal male external genitalia. Two copies of the pseudoautosomal gene, MIC2, were present in DNA of each individual. All sequences examined on the Y-specific portion of the short arm, including those for the sex-determining region Y (SRY) gene, were present. By contrast, portions of the long arm of the Y chromosome were missing from DNA of both subjects. In subject 1, deletion intervals 6 and 7 were missing. In subject 2, deletion interval 5, distal to 5B, was missing in addition to intervals 6 and 7. The most likely explanation for the ring formation in these subjects is a chromosomal break in the long arm and in the pseudoautosomal region of the short arm distal to MIC2 with subsequent ligation of the remaining sequences on the long arm and short arm. However, a complex rearrangement cannot be excluded.

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Section: Discussionmentioning

confidence: 99%

Molecular Investigation of Two Male Subjects with Short Stature and a 45,X/46,X,Ring(Y) Karyotype

Sher¹,

Addelston²,

Plotnick³

et al. 1997

Horm Res Paediatr

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“…Some of these patients exhibit Turner stigmata but are of normal size. The Turner growth gene therefore has to reside either on Yq (and its respective homologue on the X chromosome) or within the pseudoautosomal region of the sex chromosomes that is present in two copies in these females [24]. The only gene within the pseudoautosomal region involved in the determination of final height is SHOX.…”

Section: Shox In Turner Syndromementioning

confidence: 99%

SHOX in Short Stature Syndromes

Blaschke¹,

Rappold²

2001

Horm Res Paediatr

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Linear growth is a multifactorial trait that is influenced and regulated by a combination of environmental and internal factors. Among the intrinsic determinants of final body height, genetic factors have become more and more prominent, and the list of genes involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. In addition, recent studies implicate SHOX haploinsufficiency in a variety of somatic Turner syndrome stigmata.

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“…ZFX and ZFY are widely expressed in a variety of tissues and ZFX is expressed from the inactivated X (Schneider-Gadicke et al, 1989;Palmer et al, 1990). Ogata et al (1993) point out that "there has been no report documenting a patient with characteristic Turner stigmata in the presence of two copies of ZFX, ZFY". The knockout of Zfx showed growth deficiency, decreased viability, and a lower number of germ cells -both in homozygous deficient Comparison of sequences showed 70-85 % homology over several sections of virus sequence with few gaps in the alignment (* in the figure).…”

Section: Discussionmentioning

confidence: 99%

Y;16 translocation breakpoint associated with a partial Turner phenotype identifies a foamy virus insertion

Drury

Erickson

Glover

1998

Cytogenet Genome Res

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We have previously identified YACs containing the Y breakpoint in a male patient with Turner-like hydrops in the newborn period and a Y;16 translocation (Erickson et al., 1995). We have now subcloned these YACs and built a lambda contig across the Y breakpoint. A subclone near the Y;16 breakpoint of our patient shows great evolutionary conservation by hybridization to a zoo blot. We have sequenced the region responsible for the hybridization and found a foamy (spuma) virus sequence. These viruses are known to be xenotropic and a very similar cross-species hybridization (using the same commercial zoo blot) was recently reported with a human foamy virus clone (Cordonnier et al., 1995). Thus, we have identified a foamy virus insertion near the Y heterochromatin boundary.

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Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Cited by 38 publications

References 35 publications

Molecular Investigation of Two Male Subjects with Short Stature and a 45,X/46,X,Ring(Y) Karyotype

Molecular Investigation of Two Male Subjects with Short Stature and a 45,X/46,X,Ring(Y) Karyotype

SHOX in Short Stature Syndromes

Y;16 translocation breakpoint associated with a partial Turner phenotype identifies a foamy virus insertion

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