Alternative titles; symbols
HGNC Approved Gene Symbol: TRPS1
SNOMEDCT: 254091006;
Cytogenetic location: 8q23.3 Genomic coordinates (GRCh38) : 8:115,408,496-115,668,975 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 8q23.3 | Trichorhinophalangeal syndrome, type I | 190350 | Autosomal dominant | 3 |
| Trichorhinophalangeal syndrome, type III | 190351 | Autosomal dominant | 3 |
TRPS1 is a zinc finger transcriptional repressor involved in the regulation of chondrocyte and perichondrium development (Napierala et al., 2008).
Momeni et al. (2000) positionally cloned a gene that spanned the chromosomal breakpoint in 2 patients with trichorhinophalangeal syndrome type I (TRPS I; 190350) and was deleted in 5 patients with TRPS I associated with an interstitial deletion. Northern blot analyses revealed transcripts of 7 and 10.5 kb. The gene, designated TRPS1, encodes a polypeptide of 1,281 amino acids. The predicted protein sequence has 2 potential nuclear localization signals (LRRRRG and RRRTRKR) and an unusual combination of different zinc finger motifs, including IKAROS-like (see 603023) and GATA-binding (see 600576) sequences. Kaiser et al. (2004) presented evidence that only one of the basic amino acid sequences, the RRRTRKR motif (amino acids 946-952), acts as a nuclear localization signal.
Momeni et al. (2000) determined that the TRPS1 gene contains 7 exons.
By genomic sequence analysis, Momeni et al. (2000) mapped the TRPS1 gene to chromosome 8q24.
Lopez et al. (2019) used exome sequencing to study African rainforest hunter-gatherers (Pygmies) from several populations in the Congo Basin. They found evidence for a strong selective sweep in all the hunter-gatherer groups for a regulatory region of TRPS1 that was absent in adjacent agriculturalist populations.
Kaiser et al. (2003) found that 2 distinct regions of the nuclear transcription factor TRPS1 can physically interact with the dynein light chain protein DNCL1 (601562). Region A covers 89 amino acids (635-723), spanning 3 potential C2H2 zinc finger structures, and region B covers the 100 most C-terminal amino acids (1182-1281) containing the IKAROS-like motif. DNCL1 colocalized with TRPS1 in dot-like structures in the cell nucleus. An electrophoretic mobility shift assay showed that the interaction of DNCL1 and TRPS1 lowered the binding of TRPS1 to the GATA consensus sequence. In addition, a GATA-regulated reporter gene assay indicated that DNCL1 could suppress the transcriptional repression activity of TRPS1.
Radvanyi et al. (2005) performed a comprehensive differential gene expression screen on a panel of 54 breast tumors and more than 200 normal tissue samples and identified 15 genes specifically overexpressed in breast cancer, of which one of the most prevalent was TRPS1. The microarray findings were confirmed by in situ hybridization as well as immunoblot and immunofluorescence analysis of breast tumor cell lines. Immunohistochemistry analysis found TRPS1 protein expressed in greater than 90% of early- and late-stage breast cancer, including ductal carcinoma in situ and invasive ductal, lobular, and papillary carcinomas.
After identifying 7 consensus GATA-binding sites within 3 kb of the transcriptional start site of SOX9 (608160), Fantauzzo et al. (2012) performed endogenous chromatin immunoprecipitation experiments in HEK293T cells and observed that TRPS1 bound up to 5 of those sites in the SOX9 promoter. Luciferase reporter promoter assays demonstrated that TRPS1 represses SOX9 transcription in a dose-dependent manner.
Momeni et al. (2000) identified 6 different nonsense mutations in the TRPS1 gene (604386.0001-604386.0006) in 10 unrelated patients with trichorhinophalangeal syndrome type I (TRPS1; 190350). The findings suggested that haploinsufficiency for this putative transcription factor causes TRPS I.
To investigate whether trichorhinophalangeal syndrome type III (190351) is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, Ludecke et al. (2001) performed extensive mutation analysis and evaluated height and degree of brachydactyly in patients with TRPS I or TRPS III. They found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicated that TRPS1 is the major locus for TRPS I and TRPS III. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. Evaluation of skeletal abnormalities of patients with TRPS1 mutations revealed a wide clinical spectrum. The phenotype was variable in unrelated, age- and sex-matched patients with identical mutations, as well as in families. Four of the 5 missense mutations altered the GATA DNA-binding zinc finger, and 6 of the 7 unrelated patients with these mutations could be classified as having TRPS III, because they had severe brachydactyly, due to short metacarpals, and severe short stature. The data indicated that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in exon 6 the TRPS1 gene. In the study of Ludecke et al. (2001), 5 mutations were recurrent, and 4 of these were identified in patients of different ethnicities: 1 in patients of Norwegian, Turkish, and Belgian extraction, and another in patients of Belgian, Turkish, and Japanese extraction, for example.
Kobayashi et al. (2002) identified a missense mutation in exon 6 of the TRPS1 gene (604386.0009) in type III TRPS, reinforcing the conclusion of Ludecke et al. (2001).
In cases of type III TRPS, Hilton et al. (2002) found 2 missense mutations in the GATA DNA-binding zinc finger: R908Q (now R921Q; 604386.0009), a recurrent mutation, and A919V (now A932V; 604386.0010), a de novo mutation.
In cases of type I TRPS, Kaiser et al. (2004) identified the first 2 missense mutations that do not affect the GATA zinc finger (604386.0011-604386.0012).
Ludecke et al. (1995) presented evidence that the trichorhinophalangeal syndrome type II, or Langer-Giedion syndrome (150230), is a contiguous gene syndrome due to loss of functional copies of both the TRPS1 and EXT1 (608177) genes.
Investigations have demonstrated that most patients with nonsense mutations in the TRPS1 gene have the less severe TRPS type I phenotype (Momeni et al., 2000; Hatamura et al., 2001), while patients with missense mutations in the GATA-type zinc-finger region of the TRPS1 gene have the more severe TRPS type III phenotype (Ludecke et al., 2001; Hilton et al., 2002). Piccione et al. (2009) presented evidence supporting this hypothesis. They reported 2 unrelated patients with TRPS types I and III who had heterozygous nonsense and missense mutations, respectively, in the TRPS1 gene. The patient with type I TRPS had haploinsufficiency of TRPS1, whereas the patient with type III TRPS had an allele causing functional modification of the GATA-type motif, possibly inducing a dominant-negative effect on DNA transcription regulation and leading to a more severe phenotype.
Fantauzzo et al. (2008) analyzed the cytogenetic breakpoints of 3 patients with hypertrichosis universalis congenita, Ambras type (HTC1; 145701), including patients ME-1 and SS-1, originally reported by Baumeister et al. (1993) and Balducci et al. (1998), respectively. They identified a pericentric inversion in chromosome 8q23.1 that lies 7.3 Mb downstream of the TRPS1 gene in patient ME-1, a 6.7-Mb deletion that encompasses the TRPS1 gene in patient SS-1, and a 1.5-Mb deletion in chromosome 8q24.1 that lies 2.1 Mb upstream of the TRPS1 gene in patient BN-1. There was no overlap between the breakpoints in the 3 patients, so the authors defined the entire 11.5-Mb interval between markers RH62506 and D8S269 containing 20 genes, including the TRPS1 gene, as the candidate interval. Southern blot analysis was suggestive of deletion of TRPS1 in patient SS-1, and no RNA was available for patient BN-1. Quantitative RT-PCR demonstrated significant downregulation of TRPS1 in patient ME-1, suggesting that the inversion breakpoint 7.3 Mb downstream from the TRPS1 gene reduced expression, consistent with a position effect. Fantauzzo et al. (2008) suggested that position effect causing downregulation of TRPS1 expression is the probable cause of hypertrichosis in Ambras syndrome.
Malik et al. (2002) reported that mice heterozygous for deletion of the DNA-binding GATA domain of Trps1 (delta-GT mutation) displayed facial anomalies that overlapped with findings for TRPS, whereas mice homozygous for the delta-GT mutation additionally showed a complete absence of vibrissae. Unexpectedly, homozygous delta-GT mice died of neonatal respiratory failure resulting from abnormalities of the thoracic spine and ribs. Delta-GT heterozygotes also developed thoracic kyphoscoliosis with age and had structural deficits in cortical and trabecular bones. The findings directly implicated the GATA-type zinc finger of TRPS1 in regulation of bone and hair development and suggested that skeletal abnormalities emphasized in descriptions of TRPS are only the extreme manifestations of a generalized bone dysplasia.
Napierala et al. (2008) found that mice homozygous for the Trps1 delta-GT mutation showed elongation of the growth plate due to delayed chondrocyte differentiation and abnormal mineralization of perichondrium. These abnormalities were accompanied by increased Runx2 (600211) and Ihh (600726) expression and increased Ihh signaling. Cotransfection experiments showed that wildtype Trps1 bound Runx2 and repressed Runx2-mediated activation of a reporter plasmid. Double heterozygosity for Trps1 delta-GT and a Runx2-null mutation rescued the opposite growth plate phenotypes found in single mutants. Napierala et al. (2008) concluded that TRPS1 and RUNX2 interact to regulate chondrocyte and perichondrium development.
Fantauzzo et al. (2008) analyzed koala ('Koa') mice, which represent a mouse model of hypertrichosis and have a semidominant, radiation-induced chromosomal inversion near the mouse ortholog of Trps1, and found that the proximal breakpoint of the Koa inversion is located 791 kb upstream of the Trps1 gene. Quantitative RT-PCR, in situ hybridization, and immunofluorescence analysis revealed that Trps1 expression levels are reduced in Koa mutant mice at the sites of pathology for the phenotype, including muzzle and dorsal skin and cells surrounding the developing vibrissae follicles. Fantauzzo et al. (2008) determined that the Koa inversion created a new Sp1 binding site and translocated additional Sp1 binding sites within a highly conserved stretch spanning the proximal breakpoint, providing a potential mechanism for a position effect.
Fantauzzo et al. (2012) studied early morphogenesis in mouse embryos homozygous for the Trps1 delta-GT mutation and observed that mutant vibrissae follicles at embryonic day (E) 16.5 were reduced in number, irregularly spaced, and smaller than wildtype vibrissae, with evidence of both an epithelial peg and dermal condensate. Development of the mutant follicles was subsequently arrested, however, and they degenerated after peg downgrowth had been initiated. Heterozygous Trps1 delta-GT embryos displayed an intermediate vibrissae phenotype, with vibrissae follicles that were slightly larger, more advanced in development, and greater in number than those observed in homozygotes, indicating a dose-dependent requirement for Trps1 in multiple hair types. Quantitative RT-PCR in whisker pad samples from homozygous Trps1 delta-GT embryos at E12.5 showed 1.80-fold upregulation of Sox9 compared to wildtype expression levels.
Goss et al. (2019) analyzed the dental phenotype of 4-week-old male and female Trps1 heterozygous knockout mice. By microcomputed tomography, they found that female heterozygous mice had significantly decreased molar crown and root volumes compared to wildtype females. Significantly reduced enamel and dentin mineral density was found in male heterozygous mice compared to wildtype males, and significantly reduced dentin and root mineral density was found in female heterozygous mice compared to wildtype females. Decreased Opn (166490) and OC (112260) expression was observed in crown and root odontoblasts and predentin in heterozygous knockout females compared to wildtype females. This difference was only seen in the crown region in males. Goss et al. (2019) also analyzed the dental phenotype of E18.5 embryos that were homozygous for deletion of the DNA-binding GATA domain of Trps1. Trps1 knockout embryos had smaller anterior-posterior length of tooth organs compared to wildtype. Using BrdU incorporation assays, Goss et al. (2019) identified a 50% decrease in BrdU-positive cells in dental mesenchyme, and a 30% decrease in BrdU-positive cells in the dental epithelium, indicating that Trps1 is a positive regulator of cell proliferation in developing teeth. Runx2 (600211) and Osx (606633) expression patterns were different in Trps knockout embryo tooth organs compared to wildtype.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as CYS338TER (C338X) has been changed to CYS351TER (C351X).
In a familial case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) described a 1014C-A transversion in exon 4 of the TRPS1 gene, causing a nonsense mutation, cys338 to ter.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG611TER (R611X) has been changed to ARG624TER (R624X).
In a familial case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) found an 1831C-T transition in exon 4 of the TRPS1 gene, causing a nonsense mutation, arg611 to ter.
In a familial case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) found insertion of a single guanine between nucleotides 2406 and 2407 in exon 5 of the TRPS1 gene, causing frameshift from codon 803.
In a sporadic case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) found insertion of a T between nucleotides 2441 and 2442 in exon 5 of the TRPS1 gene, causing frameshift from codon 814.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG840TER (R840X) has been changed to ARG853TER (R853X).
In a sporadic case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) found a 2518C-T transition in exon 5 of the TRPS1 gene, causing a nonsense mutation, arg840 to ter.
In a sporadic case of trichorhinophalangeal syndrome type I (TRPS1; 190350), Momeni et al. (2000) found an insertion of 4 bases (GGAG) between nucleotides 3360 and 3361 in exon 7 of the TRPS1 gene, causing frameshift from codon 1121.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as THR901PRO (T901P) has been changed to THR914PRO (T914P).
In a patient with trichorhinophalangeal syndrome type III (TRPS3; 190351), who was the most severely affected patient in their study, Ludecke et al. (2001) found a thr901-to-pro missense mutation in the TRPS1 gene, which was expected to disrupt the beta-sheet structure of the GATA DNA-binding zinc finger domain and to alter the shape of the entire zinc finger.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as TYR1092TER (Y1092X) has been changed to TYR1105TER (Y1105X).
Hatamura et al. (2001) described a tyr1092-to-ter (Y1092X) nonsense mutation due to a heterozygous C-to-G transversion in the TRPS1 gene in a Japanese family with trichorhinophalangeal syndrome type I (TRPS1; 190350). The 40-year-old mother and all 3 of her children had thin sparse hair with recessed frontotemporo-occipital hairlines. Short stature, short arm span, facial deformity with bulbous nose and flat broad philtrum, and clinobrachydactyly of the fingers and toes were noted in all cases. Radiographs of the children showed brachymesophalangy associated with cone-shaped epiphyses in hands and feet.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG908GLN (R908Q) has been changed to ARG921GLN (R921Q).
Kobayashi et al. (2002) reported a Japanese family in which trichorhinophalangeal syndrome type III (TRPS3; 190351) segregated with a 2723G-A substitution in exon 6 of the TRPS1 gene, resulting in an arg908-to-gln (R908Q) missense mutation. The proposita was a 59-year-old woman with short stature, thin and slow-growing hair, and brachydactyly. Her father and 2 elder sisters likewise had this disorder. She was 138 cm tall, and one of her affected sisters, aged 66 years, was 130 cm tall. Both were of normal intelligence.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ALA919VAL (A919V) has been changed to ALA932VAL (A932V).
In a case of trichorhinophalangeal syndrome type III (TRPS3; 190351), Hilton et al. (2002) found a C-to-T transition at position 2756 in exon 6, causing an ala919-to-val (A919V) amino acid substitution in the GATA DNA-binding zinc finger.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG952CYS (R952C) has been changed to ARG965CYS (R965C).
In a father and daughter from Portugal with trichorhinophalangeal syndrome type I (TRPS1; 190350), Kaiser et al. (2004) identified heterozygosity for a 2854C-T transition in the TRPS1 gene, resulting in an arg952-to-cys (R952C) substitution. The mutation prevents the transport of the TRPS1 protein into the nucleus and thus reduces the nuclear TRPS1 concentration, consistent with haploinsufficiency.
Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG952HIS (R952H) has been changed to ARG965HIS (R965H).
In a woman from Switzerland and in affected members of 4 generations of a U.S. family with trichorhinophalangeal syndrome type I (TRPS1; 190350), Kaiser et al. (2004) identified heterozygosity for a 2855G-A transition in the TRPS1 gene, resulting in an arg952-to-his (R952H) substitution. The mutation prevents the transport of the TRPS1 protein into the nucleus and thus reduces the nuclear TRPS1 concentration, consistent with haploinsufficiency.
Balducci, R., Toscano, V., Tedeschi, B., Mangiantini, A., Toscano, R., Galasso, C., Cianfarani, S., Boscherini, B. A new case of Ambras syndrome associated with a paracentric inversion(8)(q12;q22). Clin. Genet. 53: 466-468, 1998. [PubMed: 9712536] [Full Text: https://doi.org/10.1111/j.1399-0004.1998.tb02596.x]
Baumeister, F. A. M., Egger, J., Schildhauer, M. T., Stengel-Rutkowski, S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8)(p11.2;q22). Clin. Genet. 44: 121-128, 1993. [PubMed: 8275569] [Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03862.x]
Fantauzzo, K. A., Kurban, M., Levy, B., Christiano, A. M. Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet. 8: e1003002, 2012. Note: Electronic Article. [PubMed: 23133399] [Full Text: https://doi.org/10.1371/journal.pgen.1003002]
Fantauzzo, K. A., Tadin-Strapps, M., You, Y., Mentzer, S. E., Baumeister, F. A. M., Cianfarani, S., Van Maldergem, L., Warburton, D., Sundberg, J. P., Christiano, A. M. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum. Molec. Genet. 17: 3539-3551, 2008. [PubMed: 18713754] [Full Text: https://doi.org/10.1093/hmg/ddn247]
Goss, M., Socorro, M., Monier, D., Verdelis, K., Napierala, D. Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells. Molec. Genet. Metab. 126: 504-512, 2019. [PubMed: 30691926] [Full Text: https://doi.org/10.1016/j.ymgme.2019.01.014]
Hatamura, I., Kanauchi, Y., Takahara, M., Fujiwara, M., Muragaki, Y., Ooshima, A., Ogino, T. A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. (Letter) Clin. Genet. 59: 366-367, 2001. [PubMed: 11359471] [Full Text: https://doi.org/10.1034/j.1399-0004.2001.590513.x]
Hilton, M. J., Sawyer, J. M., Gutierrez, L., Hogart, A., Kung, T. C., Wells, D. E. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J. Hum. Genet. 47: 103-106, 2002. [PubMed: 11950061] [Full Text: https://doi.org/10.1007/s100380200010]
Kaiser, F. J., Brega, P., Raff, M. L., Byers, P. H., Gallati, S., Kay, T. T., de Almeida, S., Horsthemke, B., Ludecke, H.-J. Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Europ. J. Hum. Genet. 12: 121-126, 2004. [PubMed: 14560312] [Full Text: https://doi.org/10.1038/sj.ejhg.5201094]
Kaiser, F. J., Tavassoli, K., Van den Bemd, G.-J., Chang, G. T. G., Horsthemke, B., Moroy, T., Ludecke, H.-J. Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1. Hum. Molec. Genet. 12: 1349-1358, 2003. [PubMed: 12761050] [Full Text: https://doi.org/10.1093/hmg/ddg145]
Kobayashi, H., Hino, M., Shimodahira, M., Iwakura, T., Ishihara, T., Ikekubo, K., Ogawa, Y., Nakao, K., Kurahachi, H. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. Am. J. Med. Genet. 107: 26-29, 2002. [PubMed: 11807863] [Full Text: https://doi.org/10.1002/ajmg.10081]
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Malik, T. H., von Stechow, D., Bronson, R. T., Shivdasani, R. A. Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. Molec. Cell. Biol. 22: 8592-8600, 2002. [PubMed: 12446778] [Full Text: https://doi.org/10.1128/MCB.22.24.8592-8600.2002]
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Napierala, D., Sam, K., Morello, R., Zheng, Q., Munivez, E., Shivdasani, R. A., Lee, B. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum. Molec. Genet. 17: 2244-2254, 2008. [PubMed: 18424451] [Full Text: https://doi.org/10.1093/hmg/ddn125]
Piccione, M., Niceta, M., Antona, V., Di Fiore, A., Cariola, F., Gentile, M., Corsello, G. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III. (Letter) Am. J. Med. Genet. 149A: 1837-1841, 2009. [PubMed: 19610100] [Full Text: https://doi.org/10.1002/ajmg.a.32952]
Radvanyi, L., Singh-Sandhu, D., Gallichan, S., Lovitt, C., Pedyczak, A., Mallo, G., Gish, K., Kwok, K., Hanna, W., Zubovits, J., Armes, J., Venter, D., Hakimi, J., Shortreed, J., Donovan, M., Parrington, M., Dunn, P., Oomen, R., Tartaglia, J., Berinstein, N. L. The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. Proc. Nat. Acad. Sci. 102: 11005-11010, 2005. [PubMed: 16043716] [Full Text: https://doi.org/10.1073/pnas.0500904102]