Disease relevance of salr

• Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome [1].

High impact information on salr

• Here, we show that the spalt (sal) gene complex encodes two transcription factors that are required late in pupation for photoreceptor differentiation [2].
• Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes [3].
• Loss of both spalt and spalt-related function in flies yields morphological defects in the testes, genitalia, and the antenna [3].
• Spalt transcription factors are required for R3/R4 specification and establishment of planar cell polarity in the Drosophila eye [4].
• Here, we show that the spalt zinc-finger transcription factors (spalt major and spalt-related) are part of the molecular mechanisms regulating R3/R4 specification and planar cell polarity establishment [4].

Biological context of salr

• Here, we identify regulatory regions in the spalt/spalt-related gene complex that direct expression in the wing disc [5].
• These results suggest that the three genes and their present cis-regulatory regions arose through a chromosomal rearrangement involving local duplication and transposition events in the 32F/33A region on the left arm of the second chromosome [6].
• In addition, we show that spalt genes are required for proper localization of Flamingo in the equatorial side of R3 and R4, and for the upregulation of Delta in R3 [4].
• Electron microscopy showed that in the absence of spalt, the central nervous system cells are separated by enlarged extracellular spaces populated by membranous material at 60% of embryonic development [7].
• An extensive survey by laser confocal microscopy revealed that the spalt mutant central nervous system has abnormal levels of particular cell adhesion and cytoskeletal proteins [7].

Anatomical context of salr

• We postulate that spalt and spalt-related belong to a category of transcriptional regulators that subdivide the thorax into expression domains (prepattern) required for the localised activation of proneural genes [5].
• The gene spalt is expressed in the embryonic central nervous system of Drosophila melanogaster but its function in this tissue is still unknown [7].

Other interactions of salr

• Here, we present the isolation and characterization of novel spalt/spalt-related alleles, which analysis indicates that these genes cannot substitute for each other in the developmental processes studied [8].
• We find that dachshund and spalt/spalt-related are essential for proper joint formation between particular antennal segments [9].

References