TY - JOUR
T1 - Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene
AU - Carrozzo, Romeo
AU - Ellison, Jay
AU - Yen, Pauline
AU - Taillon-Miller, Patricia
AU - Brownstein, Bernard H.
AU - Persico, Graziella
AU - Ballabio, Andrea
AU - Shapiro, Larry
N1 - Funding Information:
We thank Hsiao-Fen Huang for her excellent technical assistance, David Pomerantz for his involvement in the initial phase of the work, and L. Bernatowicz and J. Wang for their unpublished data. We also thank Generoso Andria for his support and David Schlessinger and David Ledbetter for the critical reading of the manuscript. We are grateful to N. Affara and M. Ferguson-Smith for probes GMGXY19 and GMGXYB. The work was supported by funds from the Howard Hughes Medical Institute, Grant SCE-0140 from the Commission of European Communities to G.P., NIH Grant HD12178 and Grant l-639 from the March of Dimes to L.S., NIH Grant HD24064 and NIH Grant HG00210 to A.B., and NIH grant HG00201 to the P50 Human Genome Center at Washington University.
PY - 1992/1
Y1 - 1992/1
N2 - The region surrounding the steroid sulfatase (STS) locus on Xp22.3 is of particular interest since it represents a deletion hot spot, shares homology with the proximal long arm of the Y chromosome (Yq11.2), and contains genes for several well-described X-linked disorders. Here we describe yeast artificial chromosomes (YACs) covering 450 kb around the STS gene. Eight YAC clones were isolated from a human YAC library. Their STS exon content was determined and the overlap of the clones characterized. Two of the YAC clones were found to contain the entire STS gene. The most proximal and the most distal ends of the YAC contig were cloned but neither of them crossed the breakpoints in any of the previously described patients with entire STS gene deletions. This is consistent with deletions larger than 500 kb in all these patients. One of the YAC clones was found to contain sequences from the STS pseudogene on Yq11.2. Two anonymous DNA sequences, GMGXY19 and GMGXY3, previously mapped in the vicinity of the STS locus, were found within the YAC contig and their assignment with respect to the STS locus was thus possible. This contig is useful for the overlap cloning of the Xp22.3 region and for reverse genetic strategies for the isolation of disease genes in the region. Furthermore, it may provide insight into the molecular mechanisms of deletion and translocation events on Xp22.3 and in the evolution of sex chromosomes.
AB - The region surrounding the steroid sulfatase (STS) locus on Xp22.3 is of particular interest since it represents a deletion hot spot, shares homology with the proximal long arm of the Y chromosome (Yq11.2), and contains genes for several well-described X-linked disorders. Here we describe yeast artificial chromosomes (YACs) covering 450 kb around the STS gene. Eight YAC clones were isolated from a human YAC library. Their STS exon content was determined and the overlap of the clones characterized. Two of the YAC clones were found to contain the entire STS gene. The most proximal and the most distal ends of the YAC contig were cloned but neither of them crossed the breakpoints in any of the previously described patients with entire STS gene deletions. This is consistent with deletions larger than 500 kb in all these patients. One of the YAC clones was found to contain sequences from the STS pseudogene on Yq11.2. Two anonymous DNA sequences, GMGXY19 and GMGXY3, previously mapped in the vicinity of the STS locus, were found within the YAC contig and their assignment with respect to the STS locus was thus possible. This contig is useful for the overlap cloning of the Xp22.3 region and for reverse genetic strategies for the isolation of disease genes in the region. Furthermore, it may provide insight into the molecular mechanisms of deletion and translocation events on Xp22.3 and in the evolution of sex chromosomes.
UR - http://www.scopus.com/inward/record.url?scp=0026509591&partnerID=8YFLogxK
U2 - 10.1016/0888-7543(92)90399-D
DO - 10.1016/0888-7543(92)90399-D
M3 - Article
C2 - 1733866
AN - SCOPUS:0026509591
VL - 12
SP - 7
EP - 12
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -