Loss of the Sall3 Gene Leads to Palate Deficiency, Abnormalities in Cranial Nerves, and Perinatal Lethality
Open accessAbstract
Members of the Spalt gene family encode putative transcription factors characterized by seven to nine C2H2 zinc finger motifs. Four genes have been identified in mice--Spalt1 to Spalt4 (Sall1 to Sall4). Spalt homologues are widely expressed in neural and mesodermal tissues during early embryogenesis. Sall3 is normally expressed in mice from embryonic day 7 (E7) in the neural ectoderm and primitive streak and subsequently in the brain, peripheral nerves, spinal cord, limb buds, palate, heart, and otic vesicles. We have generated a targeted disruption of Sall3 in mice. Homozygous mutant animals die on the first postnatal day and fail to feed. Examination of the oral structures of these animals revealed that abnormalities were present in the palate and epiglottis from E16.5. In E10.5 embryos, deficiencies in cranial nerves that normally innervate oral structures, particularly the glossopharyngeal nerve (IX), were observed. These studies indicate that Sall3 is required for the development of nerves that are derived from the hindbrain and for the formation of adjacent branchial arch derivatives.
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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 Parrish et al, 2004
Cites
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“Humans and mice with mutations in Sall1 (SALL1; TownesBrocks disorder) exhibit renal, ear, limb, anal, and cardiac abnormalities (21, 25, 42, 53).”
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Head 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
“Spalt proteins have subsequently been shown to be required for appropriate migration, differentiation, and pattern formation in the development of the Drosophila wing, trachea, antenna, oenocytes-chordotonal organs, and photoreceptors (10, 11, 12, 17, 31, 32, 39, 48).”
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Murine Sall1 represses transcription by recruiting a histone deacetylase complex
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“The first two zinc fingers of the Drosophila Spalt-related gene product have been shown to possess DNA binding activity, and potent transcriptional repression activity has been demonstrated for the N-terminal regions of human SALL1, murine Sall1, and chicken cSal-1 and cSal-3 proteins (2, 20 , 41, 52).”
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Sakaki-Yumoto, M., Kobayashi, C., Sato, A., Fujimura, S., Matsumoto, Y., Takasato, M., Kodama, T., Aburatani, H., Asashima, M., Yoshida, N., et al. (2006) · Development · doi:10.1242/dev.02457 · Cited by 264 · see citing works
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Harrison, S. J., Nishinakamura, R., Jones, K. R., & Monaghan, A. P. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.002873 · Cited by 42 · see citing works
Self-citationStructure 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
“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).”
- Authors
- Parrish, M., Ott, T., Lance-Jones, C., Schuetz, G., Schwaeger-Nickolenko, A., & Monaghan, A. P.
- Affiliations
- University of Pittsburgh (US)
- University of Bonn (DE)
- German Cancer Research Center (DE)
- Corresponding author
- Monaghan, A. P.
- Venue
- Molecular and Cellular Biology
- Publisher
- Informa UK Limited
- Published
- 2004-08-01
- Volume
- 24
- Issue
- 16
- Pages
- 7102-7112
- ISSN
- 0270-7306 (ISSN-L)
- 1098-5549
- PMC
- PMC479739
- OpenAlex
- W2111967517
- Cited by
- 61
- References
- 6
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 3 · 2015: 4 · 2012: 2
- FWCI
- 1.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular and Cellular Biology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (T32 MH18273, R01MH060774, T32MH018273)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Keywords
- SALL3, C2H2 zinc finger transcription factor, palate development, cranial nerve development, glossopharyngeal nerve, perinatal lethality, epiglottis, hindbrain, neural crest, embryonic lethality, knockout mice
- MeSH terms
- Animals, Animals, Newborn, Behavior, Animal, Branchial Region, Cranial Nerves, Ear, Embryo, Mammalian, Epiglottis, Female, Gestational Age, Heart, Kidney, Palate, Phenotype, Pregnancy, Spinal Cord, Transcription Factors, Mice, Knockout, Gene Targeting, Homeodomain Proteins, Craniofacial Abnormalities, Xenopus Proteins, Mice
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