Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects

• Published in: Human molecular genetics Vol. 12; no. 17; pp. 2221 - 2227
• Main Authors: Kiefer, Susan McLeskey, Ohlemiller, Kevin K., Yang, Jing, McDill, Bradley W., Kohlhase, Jürgen, Rauchman, Michael
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.09.2003; Oxford Publishing Limited (England)
• Subjects: 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; Human; Vertebrata; Mammalia; Mouse; Pathogenesis; Rodentia; Truncated shape; Mutation; Gene expression; Transcription factor; Birth; Complex syndrome

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...