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Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption
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| Zeitschriftentitel: | Blood |
|---|---|
| Personen und Körperschaften: | , , , |
| In: | Blood, 94, 1999, 10, S. 3604-3606 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
American Society of Hematology
|
| Schlagwörter: |
| author_facet |
Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. |
|---|---|
| author |
Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. |
| spellingShingle |
Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. Blood Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption Cell Biology Hematology Immunology Biochemistry |
| author_sort |
xu, danbin |
| spelling |
Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. 1528-0020 0006-4971 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood.v94.10.3604.422k22_3604_3606 <jats:p>Cubilin is a high molecular weight multiligand receptor that mediates intestinal absorption of intrinsic factor-cobalamin and selective protein reabsorption in renal tubules. The genetic basis of selective intestinal cobalamin malabsorption with proteinuria was investigated in a canine model closely resembling human Imerslund-Gräsbeck syndrome caused by cubilin mutations. CanineCUBN cDNA was cloned and sequenced, showing high identity with human and rat CUBN cDNAs. An intragenic CUBN marker was identified in the canine family and used to test the hypothesis of genetic linkage of the disease and CUBN loci. Linkage was rejected, indicating that the canine disorder resembling Imerslund-Gräsbeck syndrome is caused by defect of a gene product other than cubilin. These results imply that there may be locus heterogeneity among human kindreds with selective intestinal cobalamin malabsorption and proteinuria and that normal brush-border expression of cubilin requires the activity of an accessory protein.</jats:p> Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption Blood |
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10.1182/blood.v94.10.3604.422k22_3604_3606 |
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American Society of Hematology, 1999 |
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American Society of Hematology, 1999 |
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1528-0020 0006-4971 |
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American Society of Hematology |
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| title |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_unstemmed |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_full |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_fullStr |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_full_unstemmed |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_short |
Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_sort |
genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption |
| topic |
Cell Biology Hematology Immunology Biochemistry |
| url |
http://dx.doi.org/10.1182/blood.v94.10.3604.422k22_3604_3606 |
| publishDate |
1999 |
| physical |
3604-3606 |
| description |
<jats:p>Cubilin is a high molecular weight multiligand receptor that mediates intestinal absorption of intrinsic factor-cobalamin and selective protein reabsorption in renal tubules. The genetic basis of selective intestinal cobalamin malabsorption with proteinuria was investigated in a canine model closely resembling human Imerslund-Gräsbeck syndrome caused by cubilin mutations. CanineCUBN cDNA was cloned and sequenced, showing high identity with human and rat CUBN cDNAs. An intragenic CUBN marker was identified in the canine family and used to test the hypothesis of genetic linkage of the disease and CUBN loci. Linkage was rejected, indicating that the canine disorder resembling Imerslund-Gräsbeck syndrome is caused by defect of a gene product other than cubilin. These results imply that there may be locus heterogeneity among human kindreds with selective intestinal cobalamin malabsorption and proteinuria and that normal brush-border expression of cubilin requires the activity of an accessory protein.</jats:p> |
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| author | Xu, Danbin, Kozyraki, Renata, Newman, Thomas C., Fyfe, John C. |
| author_facet | Xu, Danbin, Kozyraki, Renata, Newman, Thomas C., Fyfe, John C., Xu, Danbin, Kozyraki, Renata, Newman, Thomas C., Fyfe, John C. |
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| description | <jats:p>Cubilin is a high molecular weight multiligand receptor that mediates intestinal absorption of intrinsic factor-cobalamin and selective protein reabsorption in renal tubules. The genetic basis of selective intestinal cobalamin malabsorption with proteinuria was investigated in a canine model closely resembling human Imerslund-Gräsbeck syndrome caused by cubilin mutations. CanineCUBN cDNA was cloned and sequenced, showing high identity with human and rat CUBN cDNAs. An intragenic CUBN marker was identified in the canine family and used to test the hypothesis of genetic linkage of the disease and CUBN loci. Linkage was rejected, indicating that the canine disorder resembling Imerslund-Gräsbeck syndrome is caused by defect of a gene product other than cubilin. These results imply that there may be locus heterogeneity among human kindreds with selective intestinal cobalamin malabsorption and proteinuria and that normal brush-border expression of cubilin requires the activity of an accessory protein.</jats:p> |
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| imprint | American Society of Hematology, 1999 |
| imprint_str_mv | American Society of Hematology, 1999 |
| institution | DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229 |
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| spelling | Xu, Danbin Kozyraki, Renata Newman, Thomas C. Fyfe, John C. 1528-0020 0006-4971 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood.v94.10.3604.422k22_3604_3606 <jats:p>Cubilin is a high molecular weight multiligand receptor that mediates intestinal absorption of intrinsic factor-cobalamin and selective protein reabsorption in renal tubules. The genetic basis of selective intestinal cobalamin malabsorption with proteinuria was investigated in a canine model closely resembling human Imerslund-Gräsbeck syndrome caused by cubilin mutations. CanineCUBN cDNA was cloned and sequenced, showing high identity with human and rat CUBN cDNAs. An intragenic CUBN marker was identified in the canine family and used to test the hypothesis of genetic linkage of the disease and CUBN loci. Linkage was rejected, indicating that the canine disorder resembling Imerslund-Gräsbeck syndrome is caused by defect of a gene product other than cubilin. These results imply that there may be locus heterogeneity among human kindreds with selective intestinal cobalamin malabsorption and proteinuria and that normal brush-border expression of cubilin requires the activity of an accessory protein.</jats:p> Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption Blood |
| spellingShingle | Xu, Danbin, Kozyraki, Renata, Newman, Thomas C., Fyfe, John C., Blood, Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption, Cell Biology, Hematology, Immunology, Biochemistry |
| title | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_full | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_fullStr | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_full_unstemmed | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_short | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| title_sort | genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption |
| title_unstemmed | Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption |
| topic | Cell Biology, Hematology, Immunology, Biochemistry |
| url | http://dx.doi.org/10.1182/blood.v94.10.3604.422k22_3604_3606 |