Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal
Objective: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings. Design: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y...
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| Veröffentlicht in: | Fertility and sterility 1997-04, Vol.67 (4), p.675-679 |
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| creator | Hines, Randall S. Tho, Sandra P.T. Zhang, Yue Y. Plouffe, Leo Hansen, Keith A. Khan, Iqbal McDonough, Paul G. |
| description | Objective: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings.
Design: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY).
Setting: An academic teaching hospital.
Patients: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females.
Intervention: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing.
Main Outcome Measure: Comparison of control and subject DNA.
Results: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sexreversed siblings revealed identical missense mutations (T → G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T→ G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T → G missense mutation.
Conclusion: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females. |
| doi_str_mv | 10.1016/S0015-0282(97)81365-9 |
| format | Article |
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Design: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY).
Setting: An academic teaching hospital.
Patients: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females.
Intervention: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing.
Main Outcome Measure: Comparison of control and subject DNA.
Results: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sexreversed siblings revealed identical missense mutations (T → G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T→ G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T → G missense mutation.
Conclusion: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.</description><identifier>ISSN: 0015-0282</identifier><identifier>EISSN: 1556-5653</identifier><identifier>DOI: 10.1016/S0015-0282(97)81365-9</identifier><identifier>PMID: 9093193</identifier><identifier>CODEN: FESTAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Biological and medical sciences ; Blotting, Southern ; Child ; DNA ; DNA - analysis ; DNA - genetics ; DNA Primers - chemistry ; DSS ; Female ; Genome, Human ; Gonadal Dysgenesis, 46,XY - etiology ; Gonadal Dysgenesis, 46,XY - genetics ; Gynecology. Andrology. Obstetrics ; Humans ; Lymphocytes - chemistry ; Male ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; mosaicism ; Mosaicism - genetics ; Mutation - genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Spermatozoa - chemistry ; SRY ; SSCP ; Swyer ; XY sex reversal ; Y Chromosome - genetics</subject><ispartof>Fertility and sterility, 1997-04, Vol.67 (4), p.675-679</ispartof><rights>1997</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c502t-de6e7cd19042daca13324216eb7db09585d6179865d7d0524b68fa2ab9c382153</citedby><cites>FETCH-LOGICAL-c502t-de6e7cd19042daca13324216eb7db09585d6179865d7d0524b68fa2ab9c382153</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0015-0282(97)81365-9$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>309,310,314,780,784,789,790,3550,23930,23931,25140,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2638973$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9093193$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hines, Randall S.</creatorcontrib><creatorcontrib>Tho, Sandra P.T.</creatorcontrib><creatorcontrib>Zhang, Yue Y.</creatorcontrib><creatorcontrib>Plouffe, Leo</creatorcontrib><creatorcontrib>Hansen, Keith A.</creatorcontrib><creatorcontrib>Khan, Iqbal</creatorcontrib><creatorcontrib>McDonough, Paul G.</creatorcontrib><title>Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal</title><title>Fertility and sterility</title><addtitle>Fertil Steril</addtitle><description>Objective: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings.
Design: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY).
Setting: An academic teaching hospital.
Patients: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females.
Intervention: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing.
Main Outcome Measure: Comparison of control and subject DNA.
Results: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sexreversed siblings revealed identical missense mutations (T → G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T→ G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T → G missense mutation.
Conclusion: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Child</subject><subject>DNA</subject><subject>DNA - analysis</subject><subject>DNA - genetics</subject><subject>DNA Primers - chemistry</subject><subject>DSS</subject><subject>Female</subject><subject>Genome, Human</subject><subject>Gonadal Dysgenesis, 46,XY - etiology</subject><subject>Gonadal Dysgenesis, 46,XY - genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Lymphocytes - chemistry</subject><subject>Male</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>mosaicism</subject><subject>Mosaicism - genetics</subject><subject>Mutation - genetics</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Sequence Analysis, DNA</subject><subject>Spermatozoa - chemistry</subject><subject>SRY</subject><subject>SSCP</subject><subject>Swyer</subject><subject>XY sex reversal</subject><subject>Y Chromosome - genetics</subject><issn>0015-0282</issn><issn>1556-5653</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkd9qFDEUxoModa0-QiEXIi04mj-TZHIlUmwVCopVcK9CJjmzRGaSmswUfQWf2kx32VshEMj3-845-Q5CZ5S8oYTKt7eEUNEQ1rFzrS46yqVo9CO0oULIRkjBH6PNEXmKnpXykxAiqWIn6EQTzanmG_T3i50hRzvikiY7B4dt9HgHeWrGEAFPqdjgQpnwkDK2uMDvxkO1TCGGuMMZdiFFXM8Wn99-3V7gKZQCsVTrMteCVRnB-pWdU8XdkjPEGbfy9Y_tWq6-3UMudnyOngx2LPDicJ-i71cfvl1-bG4-X3-6fH_TOEHYXLtLUM5TTVrmrbOUc9YyKqFXvidadMLXT-pOCq88EaztZTdYZnvteMeo4Kfo1b7uXU6_FiizqSM7GEcbIS3FqE5z1WpeQbEHXU6lZBjMXQ6TzX8MJWbdgXnYgVkDNlqZhx0YXX1nhwZLP4E_ug6hV_3lQbfF2XHINtaEjxiTvNNqxd7tMahh3AfIprgA0YEPNcbZ-BT-M8g_v3ejpQ</recordid><startdate>19970401</startdate><enddate>19970401</enddate><creator>Hines, Randall S.</creator><creator>Tho, Sandra P.T.</creator><creator>Zhang, Yue Y.</creator><creator>Plouffe, Leo</creator><creator>Hansen, Keith A.</creator><creator>Khan, Iqbal</creator><creator>McDonough, Paul G.</creator><general>Elsevier Inc</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19970401</creationdate><title>Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal</title><author>Hines, Randall S. ; Tho, Sandra P.T. ; Zhang, Yue Y. ; Plouffe, Leo ; Hansen, Keith A. ; Khan, Iqbal ; McDonough, Paul G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c502t-de6e7cd19042daca13324216eb7db09585d6179865d7d0524b68fa2ab9c382153</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>Child</topic><topic>DNA</topic><topic>DNA - analysis</topic><topic>DNA - genetics</topic><topic>DNA Primers - chemistry</topic><topic>DSS</topic><topic>Female</topic><topic>Genome, Human</topic><topic>Gonadal Dysgenesis, 46,XY - etiology</topic><topic>Gonadal Dysgenesis, 46,XY - genetics</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Lymphocytes - chemistry</topic><topic>Male</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>mosaicism</topic><topic>Mosaicism - genetics</topic><topic>Mutation - genetics</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Sequence Analysis, DNA</topic><topic>Spermatozoa - chemistry</topic><topic>SRY</topic><topic>SSCP</topic><topic>Swyer</topic><topic>XY sex reversal</topic><topic>Y Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hines, Randall S.</creatorcontrib><creatorcontrib>Tho, Sandra P.T.</creatorcontrib><creatorcontrib>Zhang, Yue Y.</creatorcontrib><creatorcontrib>Plouffe, Leo</creatorcontrib><creatorcontrib>Hansen, Keith A.</creatorcontrib><creatorcontrib>Khan, Iqbal</creatorcontrib><creatorcontrib>McDonough, Paul G.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Fertility and sterility</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hines, Randall S.</au><au>Tho, Sandra P.T.</au><au>Zhang, Yue Y.</au><au>Plouffe, Leo</au><au>Hansen, Keith A.</au><au>Khan, Iqbal</au><au>McDonough, Paul G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal</atitle><jtitle>Fertility and sterility</jtitle><addtitle>Fertil Steril</addtitle><date>1997-04-01</date><risdate>1997</risdate><volume>67</volume><issue>4</issue><spage>675</spage><epage>679</epage><pages>675-679</pages><issn>0015-0282</issn><eissn>1556-5653</eissn><coden>FESTAS</coden><abstract>Objective: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings.
Design: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY).
Setting: An academic teaching hospital.
Patients: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females.
Intervention: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing.
Main Outcome Measure: Comparison of control and subject DNA.
Results: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sexreversed siblings revealed identical missense mutations (T → G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T→ G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T → G missense mutation.
Conclusion: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>9093193</pmid><doi>10.1016/S0015-0282(97)81365-9</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Fertility and sterility, 1997-04, Vol.67 (4), p.675-679 |
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| recordid | cdi_proquest_miscellaneous_78937493 |
| source | MEDLINE; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adolescent Biological and medical sciences Blotting, Southern Child DNA DNA - analysis DNA - genetics DNA Primers - chemistry DSS Female Genome, Human Gonadal Dysgenesis, 46,XY - etiology Gonadal Dysgenesis, 46,XY - genetics Gynecology. Andrology. Obstetrics Humans Lymphocytes - chemistry Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences mosaicism Mosaicism - genetics Mutation - genetics Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Spermatozoa - chemistry SRY SSCP Swyer XY sex reversal Y Chromosome - genetics |
| title | Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal |
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