SAL-LIKE 1; SALL1 OKDB#: 1525
 Symbols: SAL-LIKE 1; SALL1 Species: human
 Synonyms: HSAL1|  Locus: 16q12.1 in Homo sapiens


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General Comment The region-specific homeotic gene spalt (sal) of Drosophila is an essential genetic component required for the specification of posterior head and anterior tail as opposed to trunk segments. Sal encodes a protein that contains 3 distinct DNA-binding zinc finger domains and alanine- and glutamine-rich domains that are commonly found in transcription factors. Two sal-realted genes are SALL1 and SALL2.
General function DNA binding, Transcription factor
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Cellular localization Nuclear
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Ovarian function
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Expression regulated by
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Ovarian localization Granulosa
Comment Ma Y, et al reported that SALL1 expression in the human pituitary-adrenal/gonadal axis. SALL1 was originally identified on the basis of its DNA sequence homology to the region-specific homeotic gene Sal, in Drosophila melanogaster, which acts as a downstream target of hedgehog/tumor growth factor-beta-like decapentaplegic signals. The SALL1 gene has been associated with the Townes-Brocks Syndrome (TBS), a disorder characterized by multiorgan dysgenesis including renal and genital malformations. In this study, SALL1 message production was evaluated in association with the tissue localization of the protein product of SALL1, p140. SALL1 protein expression was observed in various adult and fetal tissues which elaborate reproductive endocrine hormones. The p140 was localized in specific microanatomic sites of the pituitary, adrenal cortex and the placenta. This pattern of expression complements prior studies demonstrating p140 in testicular fetal Leydig cells, adult Leydig and Sertoli cells, and granulosa cells of the ovary. The SALL1 protein was also shown here to be highly expressed in trophoblast tumors, which overproduce sex hormones. The expression patterns of SALL1 at multiple levels of the reproductive endocrine axis and the phenotypic effects associated with TBS suggest that SALL1 may have an important role in the interaction of the pituitary-adrenal/gonadal axis during reproduction.
Follicle stages
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Phenotypes
Mutations
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created: 2002-06-16 16:54:38 by: Aaron J Hsueh, hsuehlab   email: aaron.hsueh@stanford.edu
home page: http://reprobio.stanford.edu/hsueh



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