Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

Yen, Pauline H.; Li, Xiaomiao; Tsai, Siao-Ping; Johnson, Carey L.; Mohandas, T.; Shapiro, Larry J.

doi:10.1016/0092-8674(90)90472-q

Cited by 154 publications

(75 citation statements)

References 14 publications

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“…In all five informative families, segregation analysis showed paternal transmission of the affected X-chromosome to the XLI carrier daughter. Taken together, these findings indicate that the STS The presence of low-copy repeat regions on either side of the STS gene has been shown to be responsible for the recurrent microdeletion (Yen et al, 1990) seen in STS deficiency, with common breakpoints being seen in a significant proportion of patients (Saeki et al, 1998;Aviram-Goldring et al, 2000;Kent et al, 2008). The deletion mapping in our patients was consistent with results of previous studies.…”

Section: Molecular Analysissupporting

confidence: 82%

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

et al. 2009

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ObjectiveTo ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.MethodsWe reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.ResultsThirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%).ConclusionThe clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus. Copyright © 2009 John Wiley & Sons, Ltd.

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Section: Molecular Analysissupporting

confidence: 82%

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

et al. 2009

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“…2a;Li et al 1992). No cases involve recombination with the Y chromosome (Yen et al 1990). Recent studies show that a copy of the VCX gene is present within the S232 duplicon, and that the VCX gene family is expressed exclusively in male germ cells (Lahn and Page 2000).…”

Section: S232 Elements and X-linked Ichthyosismentioning

confidence: 99%

“…The incidence of this disorder is 1 in 2-5000 males, with ∼90% of the patients having a deletion of 1.9 Mb that includes the STS locus. The deletions are mediated by homologous recombination between duplicons called S232 elements, situated at either end of the deletion (Ballabio et al 1990;Yen et al 1990). There are 6-14 S232 duplicons, 4-12 in Xp22.3 and 2 on the Y chromosome, and each is composed of a 5-kb unique sequence and two VNTR (variable-number tandem repeat) sequences (Li et al 1992;Lahn and Page 2000).…”

Section: S232 Elements and X-linked Ichthyosismentioning

confidence: 99%

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

Ji¹,

Eichler²,

Schwartz³

et al. 2000

Genome Res.

231

158

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Chromosome-specific low-copy repeats, or duplicons, occur in multiple regions of the human genome. Homologous recombination between different duplicon copies leads to chromosomal rearrangements, such as deletions, duplications, inversions, and inverted duplications, depending on the orientation of the recombining duplicons. When such rearrangements cause dosage imbalance of a developmentally important gene(s), genetic diseases now termed genomic disorders result, at a frequency of 0.7–1/1000 births. Duplicons can have simple or very complex structures, with variation in copy number from 2 to >10 repeats, and each varying in size from a few kilobases in length to hundreds of kilobases. Analysis of the different duplicons involved in human genomic disorders identifies features that may predispose to recombination, including large size and high sequence identity between the recombining copies, putative recombination promoting features, and the presence of multiple genes/pseudogenes that may include genes expressed in germ cells. Most of the chromosome rearrangements involve duplicons near pericentromeric regions, which may relate to the propensity of such regions to accumulate duplicons. Detailed analyses of the structure, polymorphic variation, and mechanisms of recombination in genomic disorders, as well as the evolutionary origin of various duplicons will further our understanding of the structure, function, and fluidity of the human genome.

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“…In the same way, slippage or unequal crossing over may account for the high proportion of deletions observed in disorders such as DMD or steroid sulfatase deficiency for which convincing evidence exists (40).…”

Section: Genome Organization On Theoretical Grounds Gene Mapping Anmentioning

confidence: 99%

The gene map and genome organization

Frézal

1991

Jap J Human Genet

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

Cited by 154 publications

References 14 publications

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

The gene map and genome organization

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