Alternative titles; symbols
Other entities represented in this entry:
HGNC Approved Gene Symbol: SUFU
SNOMEDCT: 1156923005, 443333004;
Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38) : 10:102,502,819-102,633,535 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 10q24.32 | {Medulloblastoma} | 155255 | Autosomal dominant; Autosomal recessive; Somatic mutation | 3 |
| {Meningioma, familial, susceptibility to} | 607174 | Autosomal dominant | 3 | |
| Basal cell nevus syndrome 2 | 620343 | 3 | ||
| Joubert syndrome 32 | 617757 | Autosomal recessive | 3 |
SUFU encodes a component of the Sonic hedgehog (SHH; 600725)/Patched (PTCH; 601309) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., HPE3, 142945; BCNS, 109400, 620343; and GCPS, 175700).
By EST database searching for homologs of Drosophila suppressor of fused (Sufu), followed by RACE, Kogerman et al. (1999) obtained a cDNA encoding human SUFU. The deduced 484-amino acid protein is 40% identical to the fly protein. Northern blot analysis detected ubiquitous expression of a minor 2.8-kb and a major 5.5-kb transcript. Whole-mount in situ hybridization analysis detected expression throughout midgestation in the neural tube and, later, in the neural tube's brain and spinal cord derivatives, overlapping with expression of Ptch and Gli1 (165220), Gli2 (165230), and Gli3 (165240). Similar analysis in a 12-week human embryo showed marked expression in perichondrial osteoblasts, cells that also receive a hedgehog signal.
Stone et al. (1999) independently cloned and characterized SUFU and identified shorter splice variants, truncated by 52 and 3 amino acids. The full-length protein, which is 97% identical to the mouse protein, contains a PEST sequence and multiple potential phosphorylation sites. In addition to the same transcripts identified by Kogerman et al. (1999), they detected smaller 2.0- and 1.0-kb transcripts in testis. By semiquantitative PCR, they determined that the full-length isoform is more abundant in all tissues.
Grimm et al. (2001) identified a low abundance isoform, SUFU-XL, of 485 amino acids as well as shorter isoforms restricted to leukocytes and testis. They detected expression of normal SUFU and SUFU-XL in a panel of tumor cDNA libraries. Immunoprecipitation analysis showed that neither of the shorter isoforms is able to bind GLI1.
By genomic sequence analysis, Grimm et al. (2001) determined that the mouse and human SUFU genes contain 12 exons.
By FISH, Stone et al. (1999) mapped the SUFU gene to chromosome 10q24-q25. Grimm et al. (2001) confirmed the localization by radiation hybrid analysis. By FISH, Taylor et al. (2002) mapped the SUFU gene to 10q24.3 distal to the PTEN gene (601728), which maps to 10q23.31 and is approximately 1 Mb telomeric to BTRC.
By luciferase reporter analysis, Kogerman et al. (1999) showed that SUFU inhibits the transcriptional activity of GLI1 and osteogenic differentiation in response to SHH signaling. Immunoprecipitation analysis determined that SUFU and GLI1 are associated in an intracellular complex. Confocal microscopy demonstrated both cytoplasmic and nuclear expression of SUFU; however, colocalization with GLI1, due to a central leucine-rich CRM1 (XPO1; 602559)-dependent nuclear-export signal, was restricted to cytoplasm. Inhibition of CRM1 resulted in nuclear expression of GLI1 in the absence of full-length SUFU that has an intact C terminus necessary for GLI1-induced transcriptional activation. Truncated GLI1 bound to DNA also interacted with SUFU.
By GST pull-down and yeast 2-hybrid analysis, Stone et al. (1999) demonstrated that SUFU interacts with GLI2 and GLI3 through its extreme C-terminal end, as well as with GLI1 and SLIMB (BTRC; 603482). Reporter analysis indicated that BTRC containing an F-box domain potentiates the inhibitory effect of SUFU on GLI activity. Stone et al. (1999) concluded that SUFU is a direct negative regulator of GLI and that this regulation may occur at multiple levels, possibly depending on the relative intracellular concentrations of different signaling components.
In Drosophila, Cos2 is a major inhibitor of Shh signaling, and Sufu is a minor inhibitor. Varjosalo et al. (2006) found the opposite was true in mouse cells; RNA interference studies indicated Sufu was a major Shh repressor and the mammalian orthologs of Cos2, Kif7 and Kif27, had no effect.
Lee et al. (2007) found that expression of miR378 (MIRN378; 611957) enhanced cell survival and reduced caspase-3 (CASP3; 600636) activity in human glioma cells. Injection of miR378-expressing glioma cells into nude mice showed that miR378 promoted tumor growth and angiogenesis. Lee et al. (2007) identified miR378 target sequences in the 3-prime UTRs of SUFU and FUS1 (TUSC2; 607052) transcripts, and they found that miR378 downregulated expression of both transcripts. Transfection and overexpression of either SUFU or FUS1 overcame the growth-promoting effects of miR378. Expression of miR378 repressed expression of reporter gene constructs harboring the miR378 target sites of SUFU or FUS1. RT-PCR and Western blot analysis showed that repression of SUFU occurred posttranscriptionally, and the levels of SUFU protein and miR378 were inversely correlated in a human cell lines.
Split Hand/Foot Malformation 3
Grimm et al. (2001) found no mutations in the SUFU gene in patients with split-hand/foot malformation type 3 (SHFM3; 246560).
Lyle et al. (2006) used FISH and quantitative PCR to narrow the SHFM3 locus to a minimal 325-kb duplication containing only the BTRC (603482) and POLL (606343) genes. Expression analysis of 13 candidate genes within and flanking the duplicated region showed that BTRC and SUFU, present in 3 copies and 2 copies, respectively, were overexpressed in SHFM3 patients compared to controls. Lyle et al. (2006) suggested that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signaling.
Medulloblastoma
Bayani et al. (2000) showed that loss of heterozygosity (LOH) on 10q24 is frequent in medulloblastomas (155255), suggesting that this region contains one or more tumor suppressor genes. Taylor et al. (2002) reported children with medulloblastoma who carried germline and somatic mutations in SUFU in the SHH pathway, accompanied by LOH of the wildtype allele (see, e.g., 607035.0001-607035.0006). Several of these mutations encoded truncated proteins that are unable to export the GLI transcription factor (165220) from nucleus to cytoplasm, resulting in the activation of SHH signaling. Thus, SUFU is a tumor suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signaling pathway through a newly identified mechanism.
Taylor et al. (2002) noted that all 4 medulloblastomas with SUFU truncating mutations were of the desmoplastic subtype. Desmoplastic tumors make up about 20 to 30% of medulloblastomas, have a more nodular architecture than 'classical' medulloblastoma, and may have a better prognosis. Activation of the SHH pathway is particularly high in desmoplastic medulloblastomas, as shown by increased expression of the SHH target genes GLI, SMOH (601500), and PTCH (601309).
Brugieres et al. (2010) identified germline truncating SUFU mutations in 2 unrelated families with several children under 3 years of age diagnosed with medulloblastoma (607035.0005 and 607035.0006, respectively). Among the 25 mutation carriers in the 2 families, 7 developed medulloblastomas; of the 5 tumors for which histology was reviewed, 3 were classified as medulloblastoma with extensive nodularity (MBEN) and 2 were typical desmoplastic/nodular medulloblastoma. No obvious physical stigmata of nevoid basal cell carcinoma syndrome was found among 21 mutation carriers from both families who were examined, including 11 patients who underwent brain MRI. SUFU sequence analysis of 1 tumor from each family confirmed that only the mutant allele was detected in the tumor DNA, thus demonstrating the loss of the wildtype allele and supporting a tumor suppressor role for SUFU.
Susceptibility to Familial Meningioma
In affected members of a Finnish family with multiple adult-onset meningiomas (607174), Aavikko et al. (2012) identified a germline heterozygous mutation in the SUFU gene (R123C; 607035.0007). The mutation was identified by genomewide linkage analysis combined with exome sequencing. Tumor tissue from 7 meningiomas showed loss of heterozygosity at the SUFU locus, consistent with a 2-hit model for tumor suppressor genes. In vitro functional expression studies in human rhabdomyosarcoma cells showed that the R123C mutant protein had a significantly decreased ability to suppress GLI1 activity compared to wildtype SUFU, resulting in aberrant activation of the hedgehog signaling pathway.
Basal Cell Nevus Syndrome 2
In affected members of a family exhibiting atypical signs and symptoms of Gorlin syndrome (BCNS2; 620343), who were known to be negative for mutation in the PTCH1 gene, Pastorino et al. (2009) identified a splice site mutation (607035.0003) that had previously been found in a desmoplastic medulloblastoma by Taylor et al. (2002).
By next-generation sequencing in a 52-year-old woman and her 80-year-old mother with basel cell nevus syndrome, Alvarez-Salafranca et al. (2023) identified a heterozygous 1-bp deletion in the SUFU gene (c.71del; 607035.0005). Both patients had infiltrative basal cell carcinomas and palmar pits. The daughter also had sagittal and parasagittal dural calcifications, thus fulfilling the 3 major criteria for Gorlin syndrome.
In a 31-year-old patient with basal cell nevus syndrome, Petrosian et al. (2023) identified a c.367C-A transversion in exon 3 of the SUFU gene, resulting in an arg123-to-ser (R123S) substitution. The mutation, which was identified by sequencing of a panel of 77 genes associated with hereditary cancers, was classified as a variant of unknown significance. The patient presented with numerous facial papules and had a clinical history of basal cell carcinomas, cervical polyps, uterine fibroids, Plummer Vinson syndrome, arthritis, and decreased visual acuity due to presbyopia and vitreous detachment. Several facial papules were biopsied and were shown to be basal cell carcinomas with follicular differentiation. The patient also had graying of her hair at 13 years of age.
Tumor Predisposition Review
Through an international collaboration, Guerrini-Rousseau et al. (2022) identified 172 carriers of SUFU pathogenic variants from 83 families, including 127 previously reported individuals. Overall, 117/172 carriers (68%) developed at least 1 tumor: medulloblastoma (86 patients; median age at diagnosis, 1.5 years), basal cell carcinoma (25 patients; median age at diagnosis, 40 years), meningioma (20 patients; median age at diagnosis, 44 years), and gonadal tumors (11 patients; median age at diagnosis, 14 years). Thirty-three carriers (28%) had multiple tumors. Sixty-four different variants were reported across the entire SUFU gene and were inherited in 73% of cases in which inheritance could be evaluated. The authors proposed screening recommendations for carriers.
Joubert Syndrome 32
In 4 children from 2 unrelated consanguineous families with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017) identified 2 different homozygous missense mutations in the SUFU gene (I406T, 607035.0008 and H176R, 607035.0009). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. In vitro functional cellular expression studies showed that both variants were hypomorphic, causing significantly reduced SUFU stability, decreased binding to GLI3, and decreased production of the repressor GLI3R. Patient cells showed altered expression levels of several SHH (600725) target genes, including significant overexpression of BCL2 (151430), GLI1 (165220), and PTCH1 (601309), indicating that the mutations impaired SUFU-mediated repression of the SHH pathway. De Mori et al. (2017) concluded that germline mutations in the SUFU gene can cause deregulation of SHH signaling, resulting in recessive developmental defects of the central nervous system and limbs that share features of both SHH-related disorders and ciliopathies.
Svard et al. (2006) found that ablation of the mouse Sufu gene led to lethality at about embryonic day 9.5 with cephalic and neural tube defects. Fibroblasts derived from Sufu-null embryos showed high Gli-mediated Shh pathway activity that was unaffected by either Smo agonists or antagonists, but was partially sensitive to Pka (see 176911) inhibition. Despite robust constitutive activity of Sufu-null fibroblasts, Gli1 localization remained cytoplasmic. Mice heterozygous for Sufu deletion appeared normal and were fertile; however, they developed a skin phenotype with basaloid changes and jaw keratocysts, characteristic features of BCNS. Svard et al. (2006) concluded that, in contrast to Drosophila, mammalian SUFU has a central role in SHH signaling, and its loss of function leads to potent ligand-independent activation of the SHH pathway.
Pospisilik et al. (2010) found that hedgehog signaling was an important determinant of adipose cell fate in Drosophila. They targeted Sufu deletion to adipose tissue in mice and found that the mutant mice, which they called aP2-SufuKO, were born healthy and at mendelian ratios. Mutant mice displayed an immediate and obvious lean phenotype with reduced white, but not brown, adipose tissue. Adipocyte size and total numbers were reduced in mutant animals, and this was associated with elevated hedgehog signaling and dysregulation of early adipogenic factors. Lack of cutaneous and subcutaneous adipose stores in mutant mice also resulted in cold stress at normal room temperature, but not at elevated temperature. The mutant mice showed normal glucose tolerance and insulin sensitivity.
In a medulloblastoma tumor (155255), Taylor et al. (2002) observed a nonconservative missense mutation, pro15 to leu (P15L), near the N terminus of SUFU. The mutation was accompanied by LOH in the wildtype allele. The amino acid change was caused by a 44C-T transition. The morphology of the tumor was not known.
In a patient with medulloblastoma of desmoplastic type (155255), Taylor et al. (2002) found a 1-bp insertion, 143insA, in exon 1 of the SUFU gene. The mutation caused frameshift followed by termination codon 69 bp 3-prime to the mutation.
Medulloblastoma
In a desmoplastic medulloblastoma (155255), Taylor et al. (2002) found an IVS8+1G-A splice donor site mutation in the SUFU gene. The mutation resulted in a frameshift at the 5-prime end and termination at the 3-prime end of exon 9. This was the second hit in this tumor, the first hit being a germline 2.5-Mb deletion (deletion encompassing SUFU; 607035.0004). The patient had some features suggesting basal cell nevus syndrome (620343). In addition to severe cognitive impairment and global developmental delay, facial features included frontal bossing, prominent jaw, and hypertelorism. Additional FISH experiments using contiguous BAC clones showed that the deletion was 2.5-2.8 Mb in size and included at least 28 genes. The most centromeric gene studied, BTRC (603482), was not included in the deletion. The deletion was not present in either parent.
Basal Cell Nevus Syndrome 2
In a father and son exhibiting atypical signs and symptoms of basal cell nevus syndrome (BCNS2; 620343), Pastorino et al. (2009) identified the known 1022+1G-A splice site transition in the SUFU gene. The mutation was not detected in the clinically unaffected paternal grandparents, suggesting that it arose de novo in the father; the mutation was also not found in 200 control alleles.
See 607035.0003 and Taylor et al. (2002).
Medulloblastoma
In 2 brothers who were diagnosed with medulloblastoma with extensive nodularity (MBEN; see 155255) within the first 3 months of life, Brugieres et al. (2010) identified heterozygosity for a 1-bp deletion (71delC) in exon 1 of the SUFU gene, resulting in a frameshift and premature stop codon. The deletion was also identified in the unaffected mother, as well as the maternal grandfather, who had leiomyosarcoma, and 2 other unaffected relatives. The deletion was not found in 70 controls.
Basal Cell Nevus Syndrome 2
In a 52-year-old patient and her 80-year-old mother with basal cell nevus syndrome-2 (BCNS2; 620343), Alvarez-Salafranca et al. (2023) identified heterozygosity for the c.71del mutation in the SUFU gene, predicted to result in a frameshift and premature termination (Pro24ArgfsTer72). The mutation was identified by sequencing of genes associated with Gorlin syndrome. Both patients had infiltrative basal cell carcinomas and palmar pits. The daughter also had sagittal and parasagittal dural calcifications.
In 3 female cousins diagnosed with medulloblastoma (155255) before 3 years of age, 2 of whom had the desmoplastic type and 1 with medulloblastoma with extensive nodularity (MBEN), Brugieres et al. (2010) identified heterozygosity for a 1-bp insertion (71insC) in exon 1 of the SUFU gene, resulting in a frameshift and premature stop codon. The maternal aunt of 1 of the cousins also died of medulloblastoma in childhood, and the sister of another of the cousins died suddenly at 18 months of age with postmortem radiologic findings that were consistent with medulloblastoma. The insertion was present in 17 of 33 family members, 1 of whom had breast cancer and another meningioma, but not found in 70 controls.
In affected members of a Finnish family with multiple adult-onset meningiomas (607174), Aavikko et al. (2012) identified a germline heterozygous 367C-T transition in the SUFU gene, resulting in an arg123-to-cys (R123C) substitution (rs202247756) in the core of the N-terminal subdomain, which is central for the loop structure of the protein. The mutation, which was identified by genomewide linkage analysis combined with exome sequencing, was not found in 180 controls. Tumor tissue from 7 meningiomas showed loss of heterozygosity at the SUFU locus. In vitro functional expression studies in human rhabdomyosarcoma cells showed that the R123C mutant protein had a significantly decreased ability to suppress GLI1 (165220) activity compared to wildtype SUFU, resulting in aberrant activation of the hedgehog signaling pathway. Compared to the wildtype protein, the mutant protein was expressed at lower levels and also bound to GLI1 less well. Mutant SUFU was also unable to relocalize GLI1 into the cytoplasm. These studies all indicated that the R123C mutation results in a partial loss of SUFU function. Mutations in the SUFU gene were not found in 162 additional Finnish patients with meningiomas.
In 2 sibs, born of consanguineous Italian parents (family COR369) with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017) identified a homozygous c.1217T-C transition (c.1217T-C, NM_016169.3) in the SUFU gene, resulting in an ile406-to-thr (I406T) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, Exome Variant Server, or gnomAD database, or in an in-house database of over 6,000 samples. In vitro functional cellular expression assays showed that the mutant protein had decreased stability compared to wildtype and had abnormal subcellular localization, tending to form intracytoplasmic aggregates. The mutant protein also had reduced binding affinity to GLI3 (165240), resulting in impaired repression of the SHH (600725) pathway in basal conditions, which was demonstrated in patient fibroblasts. The patients also carried a homozygous T716S mutation in the CDHR1 gene (609502), mutations in which cause later-onset cone-rod dystrophy.
In 2 sibs, born of consanguineous Egyptian parents (family MTI-2023), with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017) identified a homozygous c.527A-G transition (c.527A-G, NM_016169.3) in the SUFU gene, resulting in a his176-to-arg (H176R) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, Exome Variant Server, or gnomAD database, or in an in-house database of over 6,000 samples. In vitro functional cellular expression assays showed that the mutant protein had decreased stability compared to wildtype, but subcellular localization was similar to wildtype. The mutant protein also had reduced binding affinity to GLI3 (165240), resulting in impaired repression of the SHH (600725) pathway in basal conditions, which was demonstrated in patient fibroblasts.
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