The vertebrate spalt genes in development and disease
Open accessAbstract
The spalt proteins are encoded by a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans and vertebrates. In humans, mutations in some of these genes are associated with several congenital disorders which underscores the importance of spalt gene function in embryonic development. Recent studies have begun to cast light on the functions of this family of proteins with increasing understanding of the developmental processes regulated and the molecular mechanisms used. Here we review what is currently known about the role of spalt genes in vertebrate development and human disease.
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The pattern of missense depletion varies within the SALL family.
“The pattern of missense depletion varies within this family, as would be expected from their apparently differing roles in development (Parrish et al, 2004; Sweetman & Munsterberg, 2006; Warren et al, 2007; Yamashita et al, 2007).”
From Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome (2023) · cites this paper as Sweetman & Munsterberg, 2006
The Limb development and Future directions sections describe differing activities and developmental roles among SALL family members, supporting the explanation offered in the citing sentence. They do not report or compare missense depletion across the family, so the stated depletion pattern is not supported by this source. (LLM, conf=0.84)
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Cites
Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., & Reardon, W. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.473 · Cited by 185 · see citing works
Kohlhase, J., Schuh, R., Dowe, G., Kühnlein, R. P., Jäckle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Köhler, A., Müller, U., et al. (1996) · Genomics · doi:10.1006/geno.1996.0631 · Cited by 145 · cited 1× · see citing works
“Vertebrate spalt proteins fall into four groups, with four genes in human called SALL1-4 (Kohlhase et al., 1996, 1999, 2002b).”
BackgroundHead and tail development of the Drosophila embryo involves spalt, a novel homeotic gene
Jürgens, G. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb02799.x · Cited by 145 · cited 1× · see citing works
“These have important roles in processes as diverse as homeotic specification of the embryonic termini (Jürgens, 1988; Kuhnlein et al., 1994), wing patterning (de Celis and Barrio, 2000), sensory organ development (de Celis et al., 1999), tracheal system development (Kuhnlein and Schuh, 1996) and…”
BackgroundKohlhase, J., Heinrich, M., Liebers, M., Fröhlich Archangelo, L., Reardon, W., & Kispert, A. (2002) · Cytogenetic and Genome Research · doi:10.1159/000071048 · Cited by 82 · see citing works
Murine Sall1 represses transcription by recruiting a histone deacetylase complex
Kiefer, S. M., McDill, B. W., Yang, J., & Rauchman, M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200052200 · Cited by 79 · cited 6× · see citing works
“The possible existence of a splice variant of Kiefer et al., 2003; Sweetman et al., 2003) FGFs/Wnts(Farrelland Münsterberg, 2000) Limb patterning (McLeskey Kiefer et al., 2003), kidney development (Nishinakamura et al., 2001) HDAC (McLeskey Kiefer et al., 2002) BMP(Capdevila et al., 1999) UBE21, SUMO-1(Netzer et al.,…”
BackgroundInfluential
Flagged first, then by citations
Research works printed but not linked: 2
- Dong, P.D., Todi, S.V., Eberl, D.F., Boekhoff-Falk, G., 2003. Drosophila spalt/ spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. Proc. Natl. Acad. Sci. U. S. A. 100, 10293-10298.
- Li, D., Dower, K., Ma, Y., Tian, Y., Benjamin, T.L., 2001. A tumor host range selection procedure identifies p150(sal2) as a target of polyoma virus large T antigen. Proc. Natl. Acad. Sci. U. S. A. 98, 14619-14624.
Cited by
Sorted by citations
Sall1 is a transcriptional regulator defining microglia identity and function
Buttgereit, A., Lelios, I., Yu, X., Vrohlings, M., Krakoski, N. R., Gautier, E. L., Nishinakamura, R., Becher, B., & Greter, M. (2016) · Nature Immunology · doi:10.1038/ni.3585 · Cited by 570 · see citing works
Lu, J., Jeong, H., Kong, N., Yang, Y., Carroll, J., Luo, H. R., Silberstein, L. E., YupoMa, & Chai, L. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005577 · Cited by 168 · see citing works
“. In Drosophila, SAL is a zinc finger transcription factor and required for development of the posterior head and anterior tail segment in early embryos, as well as for later stages of organogenesis and adult wing morphogenesis”
Roles of Sall4 in the generation of pluripotent stem cells from blastocysts and fibroblasts
Tsubooka, N., Ichisaka, T., Okita, K., Takahashi, K., Nakagawa, M., & Yamanaka, S. (2009) · Genes to Cells · doi:10.1111/j.1365-2443.2009.01301.x · Cited by 154 · see citing works
Chudnovsky, Y., Kim, D., Zheng, S., Whyte, W. A., Bansal, M., Bray, M.-A., Gopal, S., Theisen, M. A., Bilodeau, S., Thiru, P., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2013.12.032 · Cited by 136 · see citing works
Miller, A., Ralser, M., Kloet, S. L., Loos, R., Nishinakamura, R., Bertone, P., Vermeulen, M., & Hendrich, B. (2016) · Development · doi:10.1242/dev.139113 · Cited by 78 · see citing works
“…in SALL4 show haploinsufficiency, resulting in the autosomal dominant Okihiro/Duane-Radial Ray and IVIC syndromes (Al-Baradie et al., 2002; Kohlhase et al., 2002; Sweetman and Munsterberg, 2006), while mutations in SALL1 lead to the autosomal dominant Townes-Brocks syndrome (Kohlhase et al., 1998).”
BackgroundSALL4 controls cell fate in response to DNA base composition
Pantier, R., Chhatbar, K., Quante, T., Skourti-Stathaki, K., Cholewa-Waclaw, J., Alston, G., Alexander-Howden, B., Lee, H. Y., Cook, A. G., Spruijt, C. G., et al. (2021) · Molecular Cell · doi:10.1016/j.molcel.2020.11.046 · Cited by 45 · see citing works
Tahara, N., Kawakami, H., Chen, K. Q., Anderson, A., Yamashita Peterson, M., Gong, W., Shah, P., Hayashi, S., Nishinakamura, R., Nakagawa, Y., et al. (2019) · Development · doi:10.1242/dev.177659 · Cited by 35 · see citing works
Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome
Watson, J. A., Pantier, R., Jayachandran, U., Chhatbar, K., Alexander-Howden, B., Kruusvee, V., Prendecki, M., Bird, A., & Cook, A. G. (2023) · Life Science Alliance · doi:10.26508/lsa.202201588 · Cited by 14 · see citing works
“This suggests that SALL1 and SALL3 have an identical DNA binding speci fi city to SALL4 in ZFC4.”
Influential
- Authors
- Sweetman, D., & Münsterberg, A.
- Affiliations
- University of East Anglia (GB)
- Corresponding author
- Sweetman, Dylan
- Venue
- Developmental Biology
- Publisher
- Elsevier BV
- Published
- 2006-05
- Volume
- 293
- Issue
- 2
- Pages
- 285-293
- ISSN
- 0012-1606 (ISSN-L)
- OpenAlex
- W2001442967
- Cited by
- 113
- References
- 5
- Citations by year
- 2025: 5 · 2024: 5 · 2023: 5 · 2022: 7 · 2021: 3 · 2020: 4 · 2019: 7 · 2018: 9 · 2017: 8 · 2016: 7 · 2015: 4 · 2014: 4 · 2013: 5 · 2012: 6
- FWCI
- 0.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Developmental Biology (publishedVersion)
- PubMed (publishedVersion)
- UEA Digital Repository (University of East Anglia) (acceptedVersion)
- Funders
- Wellcome Trust
- British Heart Foundation
- Biotechnology and Biological Sciences Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- vertebrate development, embryonic development, congenital disorders, genetic mutations, developmental regulation, molecular mechanisms, evolutionarily conserved genes
- MeSH terms
- Animals, Extremities, Genes, Homeobox, Heart, Humans, Kidney, Models, Biological, Molecular Sequence Data, Nervous System, Transcription Factors, Vertebrates, Homeodomain Proteins, Genetic Diseases, Inborn
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