YAC subclone contig assembly by serial interspersed repetitive sequence (IRS)-PCR product hybridizations

Pasteris, N. German; Bialecki, Michael D.; Gorski, Jerome L.

doi:10.1093/nar/21.22.5275

Cited by 5 publications

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“…Long-range restriction analyses tentatively localized the FGDY t(X;8) breakpoint to a 10 kb BssHll fragment (data not shown); this fragment was contained in clone 27G3 and was flanked by two potential CpG islands ( Figure 1A). A h phage subclone contig of clone 21G3 was constructed (Pasteris et al, 1993) and phage DNA inserts were examined to identify low copy (LC) and evolutionarily conserved sequences. One such fragment was identified from the 10 kb interval, a 5.5 kb EcoRl fragment, LCe5.5 ( Figure 1A).…”

Section: Isolation Of Yeast Artificial Chromosomesmentioning

confidence: 99%

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

Pasteris

Cadle

Logie³

et al. 1994

Cell

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272

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Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by disproportionately short stature and by facial, skeletal, and urogenital anomalies. Molecular genetic analyses mapped FGDY to chromosome Xp11.21. To clone this gene, YAC clones spanning an FGDY-specific translocation breakpoint were isolated. An isolated cDNA, FGD1, is disrupted by the breakpoint, and FGD1 mutations cosegregate with the disease. FGD1 codes for a 961 amino acid protein that has strong homology to Rho/Rac guanine nucleotide exchange factors (GEFs), contains a cysteine-rich zinc finger-like region, and, like the RasGEF mSos, contains two potential SH3-binding sites. These results provide compelling evidence that FGD1 is responsible for FGDY and suggest that FGD1 is a Rho/RacGEF involved in mammalian development.

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Section: Isolation Of Yeast Artificial Chromosomesmentioning

confidence: 99%