SOX20, a new member of the SOX gene family, is located on chromosome 17p13

Meyer, Jobst; Wirth, Jutta; Held, Marika; Schempp, Werner; Scherer, Gerd

doi:10.1159/000134200

Cited by 20 publications

(12 citation statements)

References 8 publications

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“…Based on pairwise comparisons of partial HMG-domain sequences, the SOX members were originally classified into six separate groups (A-E), with SOX8, SOX9, and SOX10 belonging to group E (Wright et al, 1993). This was later expanded to seven (van de Wetering and Clevers, 1993;Meyer et al, 1996) and eight groups (A-H) (Osaki et al, 1999), owing to the discovery of additional SOX genes. The latest refinements of these classifications are based on fulllength protein sequences comparisons.…”

Section: Discovery Of Sox10mentioning

confidence: 99%

The importance of having your SOX on: role of SOX10† in the development of neural crest-derived melanocytes and glia

2003

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Section: Discovery Of Sox10mentioning

confidence: 99%

The importance of having your SOX on: role of SOX10† in the development of neural crest-derived melanocytes and glia

2003

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“…The bipartite and basic cluster NLS motifs (underlined) in the HMG domains of human SRY and SOX9 are aligned with putative NLS motifs in other HMG domain transcription factors (7,(27)(28)(29)31). The SOX proteins shown represent all seven subgroups of the SOX family (27,29). Amino acids are given from positions 4 -20 and 72-78/83 of each HMG domain, with basic residues in capital letters.…”

Section: Fig 2 the Hmg Domain Of Sox9 Contains Two Nls Motifsmentioning

confidence: 99%

Two Independent Nuclear Localization Signals Are Present in the DNA-binding High-mobility Group Domains of SRY and SOX9

Südbeck

Scherer

1997

Journal of Biological Chemistry

159

143

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Mammalian sex determination and early gonadal differentiation is a developmental process involving a cascade of regulatory gene interactions. Only a few of these genes, all encoding transcription factors, are known (reviewed in Ref. 1), among them the related genes SRY and SOX9. SRY encodes the Ychromosomal testis-determining factor as shown by XY sex reversal in human individuals mutant for SRY (2, 3) and by the demonstration of testis formation in chromosomally female mice transgenic for mouse Sry (4). SOX9 on chromosome 17 is an autosomal gene essential for testis development as mutations in and around this gene cause XY sex reversal in association with the skeletal malformation syndrome campomelic dysplasia (5, 6).Both SRY and SOX9 contain an 80-amino acid DNA-binding motif known as the high-mobility group (HMG) 1 domain that characterizes a whole class of transcription factors (reviewed in Ref. 7). SRY binds to the sequence AACAAT and variants thereof (8) and induces a sharp bend in the DNA (9). The three-dimensional solution structure of the SRY HMG domain complexed with its target sequence has been solved (10), as has a similar complex of the related factor LEF-1 (11). In cell transfection studies, some evidence for transcriptional activation of testis-specific genes by SRY has been presented (12). We have shown in similar transfection assays that SOX9 also functions as a transcription factor, contains a C-terminal transactivation domain (13) and can bind via its HMG domain to the motif AACAAT (14). Recently, mouse Sox9 was found to be expressed in the gonadal anlage of both sexes, with expression increasing in the developing testis and decreasing in the developing ovary, consistent with a role for SOX9/Sox9 in Sertoli cell differentiation (15, 16).As transcription factors, SRY and SOX9 must gain access to the nucleus. Studies on nuclear localization indicate that transport across the nuclear envelope is an active process mediated by one or more nuclear localization signal sequences (NLSs), usually present in the protein itself or in a cofactor (for review, see Refs. 17 and 18). With some exceptions, two main types of NLS motifs exist. One is a short cluster of mainly basic amino acids (arginine and/or lysine), its prototype found in the simian virus 40 large tumor antigen (19). The other is a bipartite NLS motif that comprises two basic amino acids, a spacer of about 10 -15 residues consisting of any amino acid, followed by generally three basic residues, as first described for nucleoplasmin (17). Specialized NLS-binding transporter proteins that carry NLS-containing proteins through the nuclear pore complex into the nucleus have been identified recently (20).Karyophilic NLS sequences are generally identified by their ability to direct an otherwise cytoplasmic protein to the nucleus when fused to it genetically or biochemically and by the effects of deletion or point mutations on nuclear entry (18). Using these approaches with ␤-galactosidase as a reporter protein, we have identified two independent NL...

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“…When human sequences were not available, we have used SOX proteins encoded by mouse genes assuming that equivalent genes in human and mouse have identical or almost identical HMG-box domains. Accession numbers of sequences used for alignment: SOX human genes, Sox mouse genes: SRY L08063; SOX1 Y13436; SOX2 Z31560; SOX3 X71135; SOX4 X70683; SOX5 S83308; SOX6 X65663; Sox7 X65660; Sox8 Z18957; SOX9 S74152; SOX10 AJ001183; SOX11 X73038; SOX12 X73039; Sox13 Z18962; Sox15 X70909; Sox16 L29084; Sox17 L29085; Sox18 L35032; Sox19 X79821; SOX20 (Meyer et al, 1996); Sox21 U66141; SOX22 U35612; SOXA X71136. (B) Grouping of SOX genes into seven subfamilies (A-G) based on the phylogenetic tree presented at (A).…”

Section: Chromosome Location and High Resolution Mapping Of Human Sox14mentioning

confidence: 99%

Characterisation and mapping of the human SOX14 gene

Arsic

Rajić

Stanojčić

et al. 1998

Cytogenet Genome Res

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SOX genes comprise a family of genes that are related to the mammalian sex determining gene SRY in the region that encodes the HMG-box domain responsible for the sequence-specific DNA-binding activity. SOX genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes. We have cloned and characterised SOX14, a novel member of the human SOX gene family. Based on the HMG-box sequence, human SOX14 is a member of the B subfamily. SOX14 is expressed in human foetal brain, spinal cord and thymus, and like other members of the B subfamily, it might have a role in regulation of nervous system development. While other members of the B subfamily show similarity outside the HMG-box, the regions flanking the HMG box of the human SOX14 gene are unique. SOX14 has been mapped to human chromosome 3q22→ q23, close to the marker D3S1549. This location places SOX14 within a chromosome interval associated with two distinct syndromes that affect craniofacial development: Blepharophimosis-ptosis-epicantus inversus syndrome and Möbius syndrome.

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SOX20, a new member of the SOX gene family, is located on chromosome 17p13

Cited by 20 publications

References 8 publications

The importance of having your SOX on: role of SOX10† in the development of neural crest-derived melanocytes and glia

The importance of having your SOX on: role of SOX10† in the development of neural crest-derived melanocytes and glia

Two Independent Nuclear Localization Signals Are Present in the DNA-binding High-mobility Group Domains of SRY and SOX9

Characterisation and mapping of the human SOX14 gene

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