Expression of cystathionine β-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain
Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reporte...
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| description | Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reported mRNA levels of genes localized on chromosome 21, mRNA data cannot be simply extrapolated to protein levels. Furthermore, most protein data have been generated using immunochemical methods. In this study we investigated expression of three proteins (cystathionine β-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS (
n=8; mean gestational age of 19.8±2.0 weeks) and controls (
n=7; mean gestational age of 18.8±2.2 weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated (
P |
| doi_str_mv | 10.1016/j.neuint.2003.12.004 |
| format | Article |
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n=8; mean gestational age of 19.8±2.0 weeks) and controls (
n=7; mean gestational age of 18.8±2.2 weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated (
P<0.01) in fetal DS brain. This protein shows significant homology with the
E. coli SCRP-27A/ELBB and zebrafish ES1 protein and contains a potential targeting sequence to mitochondria in its N-terminal region. Based on the assumption that structural similarities reflect functional relationship, it may be speculated that ES1 is serving a basic function in mitochondria. Although no function of the human ES1 protein is known yet, ES1 may be a candidate protein involved in the pathogenesis of the brain deficit in DS.</description><identifier>ISSN: 0197-0186</identifier><identifier>EISSN: 1872-9754</identifier><identifier>DOI: 10.1016/j.neuint.2003.12.004</identifier><identifier>PMID: 15082224</identifier><identifier>CODEN: NEUIDS</identifier><language>eng</language><publisher>Oxford: Elsevier Ltd</publisher><subject>Basic Helix-Loop-Helix Transcription Factors ; Biological and medical sciences ; Brain - embryology ; Brain - enzymology ; Chromosome 21 ; Chromosome aberrations ; Cystathionine beta-Synthase - biosynthesis ; Cystathionine beta-Synthase - genetics ; Down syndrome ; Down Syndrome - embryology ; Down Syndrome - enzymology ; Down Syndrome - genetics ; ES1 ; Female ; Fetal brain ; Fetus - enzymology ; Fundamental and applied biological sciences. Psychology ; Gene Expression Regulation, Developmental - physiology ; Homeodomain Proteins - biosynthesis ; Homeodomain Proteins - genetics ; Humans ; Male ; Medical genetics ; Medical sciences ; Mitochondria - enzymology ; Mitochondria - genetics ; Proteins ; Pyridoxal Kinase - biosynthesis ; Pyridoxal Kinase - genetics ; Statistics, Nonparametric ; Transcription Factor HES-1 ; Two-dimensional gel electrophoresis ; Vertebrates: nervous system and sense organs</subject><ispartof>Neurochemistry international, 2004-07, Vol.45 (1), p.73-79</ispartof><rights>2004 Elsevier Science Ltd</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c388t-1df4f1c227b67e330196159d35d8b342b3e69d25f325b24e899d59856eebe37b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0197018603002791$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15667959$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15082224$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shin, Joo-Ho</creatorcontrib><creatorcontrib>Weitzdoerfer, Rachel</creatorcontrib><creatorcontrib>Fountoulakis, Michael</creatorcontrib><creatorcontrib>Lubec, Gert</creatorcontrib><title>Expression of cystathionine β-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain</title><title>Neurochemistry international</title><addtitle>Neurochem Int</addtitle><description>Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reported mRNA levels of genes localized on chromosome 21, mRNA data cannot be simply extrapolated to protein levels. Furthermore, most protein data have been generated using immunochemical methods. In this study we investigated expression of three proteins (cystathionine β-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS (
n=8; mean gestational age of 19.8±2.0 weeks) and controls (
n=7; mean gestational age of 18.8±2.2 weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated (
P<0.01) in fetal DS brain. This protein shows significant homology with the
E. coli SCRP-27A/ELBB and zebrafish ES1 protein and contains a potential targeting sequence to mitochondria in its N-terminal region. Based on the assumption that structural similarities reflect functional relationship, it may be speculated that ES1 is serving a basic function in mitochondria. Although no function of the human ES1 protein is known yet, ES1 may be a candidate protein involved in the pathogenesis of the brain deficit in DS.</description><subject>Basic Helix-Loop-Helix Transcription Factors</subject><subject>Biological and medical sciences</subject><subject>Brain - embryology</subject><subject>Brain - enzymology</subject><subject>Chromosome 21</subject><subject>Chromosome aberrations</subject><subject>Cystathionine beta-Synthase - biosynthesis</subject><subject>Cystathionine beta-Synthase - genetics</subject><subject>Down syndrome</subject><subject>Down Syndrome - embryology</subject><subject>Down Syndrome - enzymology</subject><subject>Down Syndrome - genetics</subject><subject>ES1</subject><subject>Female</subject><subject>Fetal brain</subject><subject>Fetus - enzymology</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression Regulation, Developmental - physiology</subject><subject>Homeodomain Proteins - biosynthesis</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mitochondria - enzymology</subject><subject>Mitochondria - genetics</subject><subject>Proteins</subject><subject>Pyridoxal Kinase - biosynthesis</subject><subject>Pyridoxal Kinase - genetics</subject><subject>Statistics, Nonparametric</subject><subject>Transcription Factor HES-1</subject><subject>Two-dimensional gel electrophoresis</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>0197-0186</issn><issn>1872-9754</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc9u1DAQxi0EokvhDRDyBQRSE_wnTuILEirbglSJA3C2HHvCeknsre1A9xF4HR6EZ8LtrgQnTqMZ_ebTzPch9JSSmhLavt7WHhbnc80I4TVlNSHNPbSifccq2YnmPloRKruK0L49QY9S2hJCOknEQ3RCBekZY80K_Vzf7CKk5ILHYcRmn7LOm9I5D_j3ryrtfd7oBGd4t4_Ohhs94W_O3020t3j9ieJdDBmcx5swhyl8xS9nl4PZBG-jK3jRN0tMIb7CBRohl9m78MPjom1jmAEPUTv_GD0Y9ZTgybGeoi8X68_n76urj5cfzt9eVYb3fa6oHZuRGsa6oe2A8_JjS4W0XNh-4A0bOLTSMjFyJgbWQC-lFbIXLcAAvBv4KXpx0C1nXy-QsppdMjBN2kNYkupozxvBaQGbA2hiSCnCqHbRzTruFSXqNgK1VYcI1G0EijJVIihrz476yzCD_bt09LwAz4-ATkZPY9TeuPQP17adFLJwbw4cFDe-O4gqGQfegHXF0axscP-_5A8xPKlZ</recordid><startdate>20040701</startdate><enddate>20040701</enddate><creator>Shin, Joo-Ho</creator><creator>Weitzdoerfer, Rachel</creator><creator>Fountoulakis, Michael</creator><creator>Lubec, Gert</creator><general>Elsevier Ltd</general><general>Elsevier</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>20040701</creationdate><title>Expression of cystathionine β-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain</title><author>Shin, Joo-Ho ; Weitzdoerfer, Rachel ; Fountoulakis, Michael ; Lubec, Gert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c388t-1df4f1c227b67e330196159d35d8b342b3e69d25f325b24e899d59856eebe37b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Basic Helix-Loop-Helix Transcription Factors</topic><topic>Biological and medical sciences</topic><topic>Brain - embryology</topic><topic>Brain - enzymology</topic><topic>Chromosome 21</topic><topic>Chromosome aberrations</topic><topic>Cystathionine beta-Synthase - biosynthesis</topic><topic>Cystathionine beta-Synthase - genetics</topic><topic>Down syndrome</topic><topic>Down Syndrome - embryology</topic><topic>Down Syndrome - enzymology</topic><topic>Down Syndrome - genetics</topic><topic>ES1</topic><topic>Female</topic><topic>Fetal brain</topic><topic>Fetus - enzymology</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression Regulation, Developmental - physiology</topic><topic>Homeodomain Proteins - biosynthesis</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mitochondria - enzymology</topic><topic>Mitochondria - genetics</topic><topic>Proteins</topic><topic>Pyridoxal Kinase - biosynthesis</topic><topic>Pyridoxal Kinase - genetics</topic><topic>Statistics, Nonparametric</topic><topic>Transcription Factor HES-1</topic><topic>Two-dimensional gel electrophoresis</topic><topic>Vertebrates: nervous system and sense organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shin, Joo-Ho</creatorcontrib><creatorcontrib>Weitzdoerfer, Rachel</creatorcontrib><creatorcontrib>Fountoulakis, Michael</creatorcontrib><creatorcontrib>Lubec, Gert</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>Neurochemistry international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shin, Joo-Ho</au><au>Weitzdoerfer, Rachel</au><au>Fountoulakis, Michael</au><au>Lubec, Gert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expression of cystathionine β-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain</atitle><jtitle>Neurochemistry international</jtitle><addtitle>Neurochem Int</addtitle><date>2004-07-01</date><risdate>2004</risdate><volume>45</volume><issue>1</issue><spage>73</spage><epage>79</epage><pages>73-79</pages><issn>0197-0186</issn><eissn>1872-9754</eissn><coden>NEUIDS</coden><abstract>Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reported mRNA levels of genes localized on chromosome 21, mRNA data cannot be simply extrapolated to protein levels. Furthermore, most protein data have been generated using immunochemical methods. In this study we investigated expression of three proteins (cystathionine β-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS (
n=8; mean gestational age of 19.8±2.0 weeks) and controls (
n=7; mean gestational age of 18.8±2.2 weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated (
P<0.01) in fetal DS brain. This protein shows significant homology with the
E. coli SCRP-27A/ELBB and zebrafish ES1 protein and contains a potential targeting sequence to mitochondria in its N-terminal region. Based on the assumption that structural similarities reflect functional relationship, it may be speculated that ES1 is serving a basic function in mitochondria. Although no function of the human ES1 protein is known yet, ES1 may be a candidate protein involved in the pathogenesis of the brain deficit in DS.</abstract><cop>Oxford</cop><pub>Elsevier Ltd</pub><pmid>15082224</pmid><doi>10.1016/j.neuint.2003.12.004</doi><tpages>7</tpages></addata></record> |
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| identifier | ISSN: 0197-0186 |
| ispartof | Neurochemistry international, 2004-07, Vol.45 (1), p.73-79 |
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| subjects | Basic Helix-Loop-Helix Transcription Factors Biological and medical sciences Brain - embryology Brain - enzymology Chromosome 21 Chromosome aberrations Cystathionine beta-Synthase - biosynthesis Cystathionine beta-Synthase - genetics Down syndrome Down Syndrome - embryology Down Syndrome - enzymology Down Syndrome - genetics ES1 Female Fetal brain Fetus - enzymology Fundamental and applied biological sciences. Psychology Gene Expression Regulation, Developmental - physiology Homeodomain Proteins - biosynthesis Homeodomain Proteins - genetics Humans Male Medical genetics Medical sciences Mitochondria - enzymology Mitochondria - genetics Proteins Pyridoxal Kinase - biosynthesis Pyridoxal Kinase - genetics Statistics, Nonparametric Transcription Factor HES-1 Two-dimensional gel electrophoresis Vertebrates: nervous system and sense organs |
| title | Expression of cystathionine β-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain |
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