Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects
Townes–Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not...
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Published in | Human molecular genetics Vol. 12; no. 17; pp. 2221 - 2227 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Oxford
Oxford University Press
01.09.2003
Oxford Publishing Limited (England) |
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Abstract | Townes–Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not mimic the human syndrome. Since the mutations that cause TBS could express a truncated SALL1 protein containing the domain necessary for transcriptional repression but lacking the complete DNA binding domain, we hypothesized that TBS is due to dominant-negative or gain-of-function activity of a mutant protein. To test this hypothesis, we have created a mutant allele, sall1-ΔZn2-10, that produces a truncated protein and recapitulates the abnormalities found in human TBS. Heterozygous mice mimic TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia and wrist bone abnormalities. Homozygous sall1-ΔZn2-10 mutant mice exhibit more severe defects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities. We demonstrate that truncated Sall1 mediates interaction with all Sall family members and could interfere with the normal function of all Sall proteins. These data support a model for the pathogenesis of TBS in which expression of a truncated SALL1 protein causes abnormal development of multiple organs. |
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AbstractList | Townes-Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not mimic the human syndrome. Since the mutations that cause TBS could express a truncated SALL1 protein containing the domain necessary for transcriptional repression but lacking the complete DNA binding domain, we hypothesized that TBS is due to dominant-negative or gain-of-function activity of a mutant protein. To test this hypothesis, we have created a mutant allele, sall1-[Delta]Zn super(2-10), that produces a truncated protein and recapitulates the abnormalities found in human TBS. Heterozygous mice mimic TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia and wrist bone abnormalities. Homozygous sall1-[Delta]Zn super(2-10) mutant mice exhibit more severe defects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities. We demonstrate that truncated Sall1 mediates interaction with all Sall family members and could interfere with the normal function of all Sall proteins. These data support a model for the pathogenesis of TBS in which expression of a truncated SALL1 protein causes abnormal development of multiple organs. Townes–Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not mimic the human syndrome. Since the mutations that cause TBS could express a truncated SALL1 protein containing the domain necessary for transcriptional repression but lacking the complete DNA binding domain, we hypothesized that TBS is due to dominant-negative or gain-of-function activity of a mutant protein. To test this hypothesis, we have created a mutant allele, sall1-ΔZn2-10, that produces a truncated protein and recapitulates the abnormalities found in human TBS. Heterozygous mice mimic TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia and wrist bone abnormalities. Homozygous sall1-ΔZn2-10 mutant mice exhibit more severe defects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities. We demonstrate that truncated Sall1 mediates interaction with all Sall family members and could interfere with the normal function of all Sall proteins. These data support a model for the pathogenesis of TBS in which expression of a truncated SALL1 protein causes abnormal development of multiple organs. Townes-Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not mimic the human syndrome. Since the mutations that cause TBS could express a truncated SALL1 protein containing the domain necessary for transcriptional repression but lacking the complete DNA binding domain, we hypothesized that TBS is due to dominant-negative or gain-of-function activity of a mutant protein. To test this hypothesis, we have created a mutant allele, sall1-DeltaZn2-10, that produces a truncated protein and recapitulates the abnormalities found in human TBS. Heterozygous mice mimic TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia and wrist bone abnormalities. Homozygous sall1-DeltaZn2-10 mutant mice exhibit more severe defects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities. We demonstrate that truncated Sall1 mediates interaction with all Sall family members and could interfere with the normal function of all Sall proteins. These data support a model for the pathogenesis of TBS in which expression of a truncated SALL1 protein causes abnormal development of multiple organs. Townes-Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb malformations. Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, a mouse model carrying a sall1-null allele does not mimic the human syndrome. Since the mutations that cause TBS could express a truncated SALL1 protein containing the domain necessary for transcriptional repression but lacking the complete DNA binding domain, we hypothesized that TBS is due to dominant-negative or gain-of-function activity of a mutant protein. To test this hypothesis, we have created a mutant allele, sall1-[Delta]Zn<2-10<, that produces a truncated protein and recapitulates the abnormalities found in human TBS. Heterozygous mice mimic TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia and wrist bone abnormalities. Homozygous sall1-[Delta]Zn<2-10< mutant mice exhibit more severe defects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities. We demonstrate that truncated Sall1 mediates interaction with all Sall family members and could interfere with the normal function of all Sall proteins. These data support a model for the pathogenesis of TBS in which expression of a truncated SALL1 protein causes abnormal development of multiple organs. |
Author | Ohlemiller, Kevin K. McDill, Bradley W. Yang, Jing Kiefer, Susan McLeskey Rauchman, Michael Kohlhase, Jürgen |
Author_xml | – sequence: 1 givenname: Susan McLeskey surname: Kiefer fullname: Kiefer, Susan McLeskey organization: Renal Division, School of Medicine, Washington University, St Louis and – sequence: 2 givenname: Kevin K. surname: Ohlemiller fullname: Ohlemiller, Kevin K. organization: Central Institute for the Deaf, St Louis, MO 63110, USA and – sequence: 3 givenname: Jing surname: Yang fullname: Yang, Jing organization: Renal Division, School of Medicine, Washington University, St Louis and – sequence: 4 givenname: Bradley W. surname: McDill fullname: McDill, Bradley W. organization: Renal Division, School of Medicine, Washington University, St Louis and – sequence: 5 givenname: Jürgen surname: Kohlhase fullname: Kohlhase, Jürgen organization: Institut für Humangenetik der Universität Göttingen, Gosslerstrasse 12d, D-37073 Göttingen, Germany – sequence: 6 givenname: Michael surname: Rauchman fullname: Rauchman, Michael organization: Renal Division, School of Medicine, Washington University, St Louis and |
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Snippet | Townes–Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb... Townes-Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth defects including renal, ear, anal and limb... |
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SubjectTerms | Abnormalities, Multiple - genetics Anal Canal - abnormalities Animals Biological and medical sciences Bone and Bones - abnormalities Carrier Proteins - genetics Cell differentiation, maturation, development, hematopoiesis Cell physiology Cercopithecus aethiops Congenital Abnormalities - genetics COS Cells DNA-Binding Proteins - genetics Fundamental and applied biological sciences. Psychology Gene Expression Regulation, Developmental Hand Deformities, Congenital Hearing Loss, Sensorineural - genetics Heterozygote Histone Deacetylases - genetics Histone Deacetylases - metabolism Homozygote Kidney - abnormalities Limb Deformities, Congenital Luciferases - metabolism Mice Mice, Knockout Molecular and cellular biology Nerve Tissue Proteins - genetics Plasmids Transcription Factors |
Title | Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects |
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