AustralieFrV1, Istex, Corpus, bibRecord, 003046

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Identifieur interne : 003046 ( Istex/Corpus ); précédent : 003045; suivant : 003047

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Auteurs : Ann P. Walker ; Jamel Chelly ; Donald R. Love ; Yumiko Ishikawa Brush ; Dominique Récan ; Jean-Louis Chaussain ; Christine A. Oley ; J. Michael Connor ; John Yates ; David A. Price ; Maurice Super ; Armand Bottani ; Beat Steinman ; Jean-Claude Kaplan ; Kay E. Davies ; Anthony P. Monaco

Source :

Human Molecular Genetics [ 0964-6906 ] ; 1992-10.

RBID : ISTEX:3336AFE7FA4EB3DB7031DB3C20A7C115FAF2CDEF

Abstract

The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.

Url:

https://api.istex.fr/document/3336AFE7FA4EB3DB7031DB3C20A7C115FAF2CDEF/fulltext/pdf

DOI: 10.1093/hmg/1.8.579

Links to Exploration step

ISTEX:3336AFE7FA4EB3DB7031DB3C20A7C115FAF2CDEF

Le document en format XML

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<author><name sortKey="Super, Maurice" sort="Super, Maurice" uniqKey="Super M" first="Maurice" last="Super">Maurice Super</name>
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</affiliation>
<affiliation><mods:affiliation></mods:affiliation>
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<front><div type="abstract">The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</div>
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<abstract>The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</abstract>
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<affiliation></affiliation>
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<abstract><p>The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</p>
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<article-title>A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes</article-title>

</title-group>

<contrib-group>

<contrib contrib-type="author">

<name><surname>Walker</surname>
<given-names>Ann P.</given-names>
</name>
<xref ref-type="corresp" rid="cor1"><sup>*</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Chelly</surname>
<given-names>Jamel</given-names>
</name>

</contrib>

<contrib contrib-type="author">

<name><surname>Love</surname>
<given-names>Donald R.</given-names>
</name>
<xref ref-type="aff" rid="au1"><sup>1</sup>
</xref>
<xref ref-type="corresp" rid="cor2"><sup>+</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Brush</surname>
<given-names>Yumiko Ishikawa</given-names>
</name>

</contrib>

<contrib contrib-type="author">

<name><surname>Récan</surname>
<given-names>Dominique</given-names>
</name>
<xref ref-type="aff" rid="au2"><sup>2</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Chaussain</surname>
<given-names>Jean-Louis</given-names>
</name>
<xref ref-type="aff" rid="au3"><sup>3</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Oley</surname>
<given-names>Christine A.</given-names>
</name>
<xref ref-type="aff" rid="au4"><sup>4</sup>
</xref>
<xref ref-type="corresp" rid="cor3"><sup>§</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Connor</surname>
<given-names>J.Michael</given-names>
</name>
<xref ref-type="aff" rid="au5"><sup>5</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Yates</surname>
<given-names>John</given-names>
</name>
<xref ref-type="aff" rid="au6"><sup>6</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Price</surname>
<given-names>David A.</given-names>
</name>
<xref ref-type="aff" rid="au7"><sup>7</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Super</surname>
<given-names>Maurice</given-names>
</name>
<xref ref-type="aff" rid="au7"><sup>7</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Bottani</surname>
<given-names>Armand</given-names>
</name>
<xref ref-type="aff" rid="au8"><sup>8</sup>
</xref>
<xref ref-type="corresp" rid="cor4"><sup>¶</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Steinman</surname>
<given-names>Beat</given-names>
</name>
<xref ref-type="aff" rid="au8"><sup>8</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Kaplan</surname>
<given-names>Jean-Claude</given-names>
</name>
<xref ref-type="aff" rid="au2"><sup>2</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Davies</surname>
<given-names>Kay E.</given-names>
</name>
<xref ref-type="aff" rid="au1"><sup>1</sup>
</xref>

</contrib>

<contrib contrib-type="author">

<name><surname>Monaco</surname>
<given-names>Anthony P.</given-names>
</name>

</contrib>

<aff><institution>ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital</institution>
 <addr-line>Oxford OX3 9DU, UK</addr-line>
</aff>

<aff id="au1"><sup>1</sup>
<institution>Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital</institution>
 <addr-line>Oxford OX3 9DU, UK</addr-line>
</aff>

<aff id="au2"><sup>2</sup>
<institution>Laboratoire de Biochimie Génétique, Hôpital Cochin-Port Royal</institution>
 <addr-line>75014 Paris</addr-line>
</aff>

<aff id="au3"><sup>3</sup>
<institution>Hôpital St Vincent de Paul</institution>
 <addr-line>75014 Paris, France</addr-line>
</aff>

<aff id="au4"><sup>4</sup>
<institution>Mater Misericordiae Mother's Hospital</institution>
 <addr-line>South Brisbane, Queensland 4101, Australia</addr-line>
</aff>

<aff id="au5"><sup>5</sup>
<institution>Department of Medical Genetics, Duncan Guthrie Institute</institution>
 <addr-line>Glasgow G3 8SJ</addr-line>
</aff>

<aff id="au6"><sup>6</sup>
<institution>Department of Pathology, University of Cambridge</institution>
 <addr-line>Cambridge CB2 1QP</addr-line>
</aff>

<aff id="au7"><sup>7</sup>
<institution>Royal Manchester Children's Hospital</institution>
 <addr-line>Pendlebury, Manchester M27 1HA, UK</addr-line>
</aff>

<aff id="au8"><sup>8</sup>
<institution>Division of Metabolism, Department of Paediatrics, University Children's Hospital</institution>
 <addr-line>Zurich, CH-8032 Zurich, Switzerland</addr-line>
</aff>

</contrib-group>

<author-notes>

<corresp id="cor1"><sup>*</sup>
 To whom correspondence should be addressed</corresp>

<corresp id="cor2"><sup>+</sup>
 Present addresses: CRC Human Cancer Genetics Research Group, Department of Pathology, University of Cambridge, Cambridge CB2 IQP</corresp>

<corresp id="cor3"><sup>§</sup>
 Northem Region Genetics Service, Royal Victoria Infirmary, Newcastle upon Tyne NE2 4AA, UK</corresp>

<corresp id="cor4"><sup>¶</sup>
 Division de Gènètique Mddicale, Centre Medical Universitaire, CR 1211 Geneve 4, Switzerland</corresp>

</author-notes>

<pub-date pub-type="ppub">

<month>10</month>

<year>1992</year>

</pub-date>

<volume>1</volume>

<issue>8</issue>

<fpage>579</fpage>

<lpage>585</lpage>

<history>

<date date-type="received">

<day>10</day>

<month>8</month>

<year>1992</year>

</date>

<date date-type="rev-recd">

<day>04</day>

<month>9</month>

<year>1992</year>

</date>

<date date-type="accepted">

<day>04</day>

<month>9</month>

<year>1992</year>

</date>

</history>

<copyright-statement>© 1992 Oxford University Press</copyright-statement>

<copyright-year>1992</copyright-year>

<abstract>

<p>The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</p>

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<name type="personal"><namePart type="given">Jamel</namePart>
<namePart type="family">Chelly</namePart>
<affiliation>ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK, Oxford OX3 9DU, UK, 75014 Paris, 75014 Paris, France, South Brisbane, Queensland 4101, Australia, Glasgow G3 8SJ, Cambridge CB2 1QP, Pendlebury, Manchester M27 1HA, UK, Zurich, CH-8032 Zurich, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Donald R.</namePart>
<namePart type="family">Love</namePart>
<affiliation>Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK</affiliation>
<affiliation></affiliation>
<affiliation>+ Present addresses: CRC Human Cancer Genetics Research Group, Department of Pathology, University of Cambridge, Cambridge CB2 IQP</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Yumiko Ishikawa</namePart>
<namePart type="family">Brush</namePart>
<affiliation>ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK, Oxford OX3 9DU, UK, 75014 Paris, 75014 Paris, France, South Brisbane, Queensland 4101, Australia, Glasgow G3 8SJ, Cambridge CB2 1QP, Pendlebury, Manchester M27 1HA, UK, Zurich, CH-8032 Zurich, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Dominique</namePart>
<namePart type="family">Récan</namePart>
<affiliation>Laboratoire de Biochimie Génétique, Hôpital Cochin-Port Royal 75014 Paris</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jean-Louis</namePart>
<namePart type="family">Chaussain</namePart>
<affiliation>Hôpital St Vincent de Paul 75014 Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Christine A.</namePart>
<namePart type="family">Oley</namePart>
<affiliation>Mater Misericordiae Mother's Hospital South Brisbane, Queensland 4101, Australia</affiliation>
<affiliation></affiliation>
<affiliation>§ Northem Region Genetics Service, Royal Victoria Infirmary, Newcastle upon Tyne NE2 4AA, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">J.Michael</namePart>
<namePart type="family">Connor</namePart>
<affiliation>Department of Medical Genetics, Duncan Guthrie Institute Glasgow G3 8SJ</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">John</namePart>
<namePart type="family">Yates</namePart>
<affiliation>Department of Pathology, University of Cambridge Cambridge CB2 1QP</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">David A.</namePart>
<namePart type="family">Price</namePart>
<affiliation>Royal Manchester Children's Hospital Pendlebury, Manchester M27 1HA, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Maurice</namePart>
<namePart type="family">Super</namePart>
<affiliation>Royal Manchester Children's Hospital Pendlebury, Manchester M27 1HA, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Armand</namePart>
<namePart type="family">Bottani</namePart>
<affiliation>Division of Metabolism, Department of Paediatrics, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland</affiliation>
<affiliation></affiliation>
<affiliation>¶ Division de Gènètique Mddicale, Centre Medical Universitaire, CR 1211 Geneve 4, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Beat</namePart>
<namePart type="family">Steinman</namePart>
<affiliation>Division of Metabolism, Department of Paediatrics, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jean-Claude</namePart>
<namePart type="family">Kaplan</namePart>
<affiliation>Laboratoire de Biochimie Génétique, Hôpital Cochin-Port Royal 75014 Paris</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kay E.</namePart>
<namePart type="family">Davies</namePart>
<affiliation>Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anthony P.</namePart>
<namePart type="family">Monaco</namePart>
<affiliation>ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK, Oxford OX3 9DU, UK, 75014 Paris, 75014 Paris, France, South Brisbane, Queensland 4101, Australia, Glasgow G3 8SJ, Cambridge CB2 1QP, Pendlebury, Manchester M27 1HA, UK, Zurich, CH-8032 Zurich, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
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<genre type="other" displayLabel="other" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</genre>
<originInfo><publisher>Oxford University Press</publisher>
<dateIssued encoding="w3cdtf">1992-10</dateIssued>
<copyrightDate encoding="w3cdtf">1992</copyrightDate>
</originInfo>
<abstract>The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.</abstract>
<note type="author-notes">* To whom correspondence should be addressed</note>
<relatedItem type="host"><titleInfo><title>Human Molecular Genetics</title>
</titleInfo>
<genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre>
<subject><topic>ORIGINAL ARTICLES</topic>
</subject>
<identifier type="ISSN">0964-6906</identifier>
<identifier type="eISSN">1460-2083</identifier>
<identifier type="PublisherID">hmg</identifier>
<identifier type="PublisherID-hwp">hmg</identifier>
<part><date>1992</date>
<detail type="volume"><caption>vol.</caption>
<number>1</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>8</number>
</detail>
<extent unit="pages"><start>579</start>
<end>585</end>
</extent>
</part>
</relatedItem>
<identifier type="istex">3336AFE7FA4EB3DB7031DB3C20A7C115FAF2CDEF</identifier>
<identifier type="DOI">10.1093/hmg/1.8.579</identifier>
<identifier type="ArticleID">1.8.579</identifier>
<accessCondition type="use and reproduction" contentType="copyright">© 1992 Oxford University Press</accessCondition>
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<recordOrigin>© 1992 Oxford University Press</recordOrigin>
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<original>true</original>
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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

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