Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

Simon A. Forbes; Lyndall Brennan; Michael Richardson; Alison Coffey; Charlotte G. Cole; Simon G. Gregory; David R. Bentley; Steven Mumm; Gudrun E. Moore; Philip Stanier

doi:10.1006/geno.1996.0006

Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

Simon A. Forbes, Lyndall Brennan, Michael Richardson, Alison Coffey, Charlotte G. Cole, Simon G. Gregory, David R. Bentley, Steven Mumm, Gudrun E. Moore, Philip Stanier

Research output: Contribution to journal › Article › peer-review

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Abstract

The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DSX349-DXS95-DXS364-DXS1196-DXS262-DXS110 - DXS1066 - (DXS1169, DXS1222) - DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map.

Original language	English
Pages (from-to)	36-43
Number of pages	8
Journal	Genomics
Volume	31
Issue number	1
DOIs	https://doi.org/10.1006/geno.1996.0006
State	Published - Jan 1 1996

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Forbes, S. A., Brennan, L., Richardson, M., Coffey, A., Cole, C. G., Gregory, S. G., Bentley, D. R., Mumm, S., Moore, G. E., & Stanier, P. (1996). Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. Genomics, 31(1), 36-43. https://doi.org/10.1006/geno.1996.0006

@article{152bd17c287a4ec381451534b1e67018,

title = "Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3",

abstract = "The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DSX349-DXS95-DXS364-DXS1196-DXS262-DXS110 - DXS1066 - (DXS1169, DXS1222) - DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map.",

author = "Forbes, {Simon A.} and Lyndall Brennan and Michael Richardson and Alison Coffey and Cole, {Charlotte G.} and Gregory, {Simon G.} and Bentley, {David R.} and Steven Mumm and Moore, {Gudrun E.} and Philip Stanier",

note = "Funding Information: This work was supported by the Medical Research Council, the Dunhill Medical Trust, the Hammersmith and Queen Charlotte's Special Health Authority, and the Wellcome Trust. S.F. holds a Medical Research Council studentship, M.R. is a Dunhill Medical Trust Research Fellow, and S.M. was a Lucille P. Markey Postdoctoral Fellow and is currently supported by NIH Training Grant 5 T32 AR07033-21. We wish to thank Frans Cremers and Carol Sargent for providing probes that were used in the course of this study and Giuseppe Pilia for screening the Washington YAC library with DXS95 and DXS1002. We are also grateful for the help of Alfred Arnason and Arni Bjornsson and the continued cooperation of the Icelandic family.",

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doi = "10.1006/geno.1996.0006",

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T1 - Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

AU - Forbes, Simon A.

AU - Brennan, Lyndall

AU - Richardson, Michael

AU - Coffey, Alison

AU - Cole, Charlotte G.

AU - Gregory, Simon G.

AU - Bentley, David R.

AU - Mumm, Steven

AU - Moore, Gudrun E.

AU - Stanier, Philip

N1 - Funding Information: This work was supported by the Medical Research Council, the Dunhill Medical Trust, the Hammersmith and Queen Charlotte's Special Health Authority, and the Wellcome Trust. S.F. holds a Medical Research Council studentship, M.R. is a Dunhill Medical Trust Research Fellow, and S.M. was a Lucille P. Markey Postdoctoral Fellow and is currently supported by NIH Training Grant 5 T32 AR07033-21. We wish to thank Frans Cremers and Carol Sargent for providing probes that were used in the course of this study and Giuseppe Pilia for screening the Washington YAC library with DXS95 and DXS1002. We are also grateful for the help of Alfred Arnason and Arni Bjornsson and the continued cooperation of the Icelandic family.

PY - 1996/1/1

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N2 - The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DSX349-DXS95-DXS364-DXS1196-DXS262-DXS110 - DXS1066 - (DXS1169, DXS1222) - DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map.

AB - The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DSX349-DXS95-DXS364-DXS1196-DXS262-DXS110 - DXS1066 - (DXS1169, DXS1222) - DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map.

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Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

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