Alternative titles; symbols
HGNC Approved Gene Symbol: MSX1
SNOMEDCT: 400036004;
Cytogenetic location: 4p16.2 Genomic coordinates (GRCh38): 4:4,859,665-4,863,936 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 4p16.2 | Ectodermal dysplasia 3, Witkop type | 189500 | Autosomal dominant | 3 |
| Orofacial cleft 5 | 608874 | Autosomal dominant | 3 | |
| Tooth agenesis, selective, 1, with or without orofacial cleft | 106600 | Autosomal dominant | 3 |
The Msx family of vertebrate HOX genes was originally isolated by homology to the Drosophila msh (muscle segment homeobox) gene. From a genomic cosmid library, Campbell et al. (1989) isolated a cosmid containing the human sequence homologous to the mouse homeobox gene Hox7 (Msx1). Hewitt et al. (1991) showed close homology in structure and sequence between human and murine HOX7. Hox7 is expressed in the heart valves, mandibular and hyeloid arches, and limb buds during normal murine development.
Odelberg et al. (2000) presented evidence that terminally differentiated murine myotubes can be induced to dedifferentiate. Ectopic expression of Msx1 in C2C12 myotubes reduced the nuclear muscle proteins MyoD (159970), myogenin (MyoG; 159980), Mrf4 (159991), and p21 (116899) to undetectable levels in 20 to 50% of the myotubes. Approximately 9% of the myotubes cleaved to produce either smaller multinucleated myotubes or proliferating, mononucleated cells. Clonal populations of the myotube-derived mononucleated cells could be induced to redifferentiate into cells expressing chondrogenic, adipogenic, myogenic, and osteogenic markers. These results suggested that terminally differentiated mammalian myotubes can dedifferentiate when stimulated with the appropriate signals and that MSX1 can contribute to the dedifferentiation process.
Blin-Wakkach et al. (2001) demonstrated the presence of an endogenous Msx1 antisense RNA in mice, rats, and humans. In situ analysis revealed that this RNA is expressed only in differentiated dental and bone cells with an inverse correlation with Msx1 protein. These in vivo data and overexpression of Msx1 sense and antisense RNA in an odontoblastic cell line showed that the balance between the levels of the 2 Msx1 RNAs is related to the expression of Msx1 protein. To analyze the impact of this balance in the Msx-Dlx homeoprotein pathway, Blin-Wakkach et al. (2001) analyzed the effect of Msx1, Msx2 (123101), and Dlx5 (600028) overexpression on proteins involved in skeletal differentiation. They showed that the Msx1 antisense RNAs is involved in crosstalk between the Msx-Dlx pathways because its expression was abolished by Dlx5. Msx1 was shown to downregulate a master gene of skeletal cell differentiation, Cbfa1 (600211). All these data were interpreted as strongly suggesting that the ratio between Msx1 sense and antisense RNAs is an important factor in the control of skeletal terminal differentiation. The initiation site for Msx1 antisense RNA transcription was located by primer extension in both mouse and human in an identical region, including a consensus TATA box, suggesting evolutionary conservation of the antisense RNA-mediated regulation of Msx1 gene expression.
By investigating MSX1 function in repression of myogenic gene expression, Lee et al. (2004) identified a physical interaction between MSX1 and H1B (142711). Lee et al. (2004) found that MSX1 and H1B bind to a key regulatory element of MYOD, a central regulator of skeletal muscle differentiation, where they induce repressed chromatin. Moreover, MSX1 and H1B cooperated to inhibit muscle differentiation in cell culture and in Xenopus animal caps. Lee et al. (2004) concluded that their findings defined a theretofore unknown function for linker histones in gene-specific transcriptional regulation.
In mouse cells, Lee et al. (2006) found that interaction of Msx1 with Pias1 (603566) was required for Msx1 to function as an inhibitor of myoblast differentiation through repression of myogenic regulatory genes, such as Myod (159970). Msx1 sumoylation was not required for its inhibitory function or its interaction with Pias1. Pias1 was required for the localization and retention of Msx1 at the nuclear periphery in mouse myoblast cells, where it colocalized with Msx1-repressed myogenic regulatory genes.
Andersson et al. (2006) showed that Lmx1a (600298) and Msx1 were determinants of midbrain dopamine neurons in mouse and chicken embryos. Lmx1a was necessary and sufficient to trigger dopamine cell differentiation, and early activity of Lmx1a induced expression of Msx1, which complemented Lmx1a by inducing expression of Ngn2 (NEUROG2; 606624) and neuronal differentiation. Expression of Lmx1a in embryonic stem cells resulted in robust generation of dopamine neurons with midbrain identity. Andersson et al. (2006) concluded that LMX1A and MSX1 are critical intrinsic dopamine neuron determinants.
Using transfected 293 EBNA cells, Venza et al. (2011) showed that MSX1 and TGF-beta-3 (TGFB3; 190230) are direct targets of the forkhead transcription factor FOXE1 (602617). They found that mutations in the FOXE1 forkhead domain, which are linked to Bamforth-Lazarus syndrome (241850), reduced or eliminated FOXE1-dependent MSX1 and TGFB3 upregulation.
Ivens et al. (1990) found that the MSX1 gene maps to chromosome 4p16.1, slightly proximal to the HD locus (143100). This region shows homology of synteny with part of mouse chromosome 5 where the murine Msx1 gene is located (Robert et al. (1989)).
By genetic linkage analyses in a family with autosomal dominant agenesis of second premolars and third molars (STHAG1; 106600), Vastardis et al. (1996) identified a locus on 4p16.1 where the MSX1 gene resides. Sequence analyses demonstrated an arg31-to-pro missense mutation (R31P; 142983.0001) in the homeodomain of MSX1 in all affected family members. They noted that arg31 is a highly conserved homeodomain residue that interacts with the ribose phosphate backbone of target DNA (Gehring et al., 1994). Vastardis et al. (1996) proposed that the R31P mutation compromises MSX1 interactions and suggested that MSX1 functions are critical for normal development of specific human teeth. They proposed that the R31P missense mutation produces the phenotype via a dominant-negative mechanism. Because this homeoprotein is expected to interact with other transcription factors and binds DNA, they speculated that the R31P MSX1 mutation could functionally inactivate partner proteins as well as perturb homeoprotein/DNA interactions.
Jumlongras et al. (2001) used candidate-gene linkage analysis in a 3-generation family to identify the gene responsible for Witkop syndrome, also known as tooth-and-nail syndrome (189500). They found linkage between the disorder and polymorphic markers surrounding the MSX1 locus. Direct sequencing and restriction enzyme analysis revealed that a heterozygous ser202-to-ter mutation (S202X; 142983.0003) in the homeodomain of MSX1 cosegregated with the phenotype. In addition, histologic analysis of Msx1-knockout mice, combined with a finding of Msx1 expression in mesenchyme of developing nail beds, revealed that not only was tooth development disrupted in these mice, but nail development was affected as well. Nail plates in Msx1-null mice were defective and were thinner than those of their wildtype littermates. The resemblance between the tooth-and-nail phenotype in the human family and that of Msx1-knockout mice strongly supported the conclusion that the S202X nonsense mutation in MSX1 causes Witkop syndrome and that Msx1 is critical for both tooth and nail development.
Van den Boogaard et al. (2000) identified a nonsense mutation in exon 1 of the MSX1 gene (142983.0002) in a family with autosomal dominant tooth agenesis and combinations of cleft palate only and cleft lip and cleft palate. The mutant phenotype of the family was similar to that of the Msx1 mutant mouse.
Scarel et al. (2000) performed mutation analysis of exon 2 of the MSX1 gene, which contains the homeodomain, in 20 individuals with different patterns of familial or isolated hypodontia and 30 healthy individuals. Direct sequencing of PCR products showed no polymorphisms or mutations in the MSX1 gene.
Lidral and Reising (2002) screened 92 individuals with tooth agenesis from 82 nuclear families for mutations in the MSX1 gene and identified a novel missense mutation (142983.0008) in 2 sibs from a large family segregating autosomal dominant oligodontia. The pattern of oligodontia was similar to that in previously reported patients with mutations in the MSX1 gene, suggesting that mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis.
Jezewski et al. (2003) determined the complete genomic sequence of the MSX1 gene in 917 persons of various ethnicities who had nonsyndromic cleft lip/palate (OFC5; 608874); potentially etiologic mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in 7 unrelated subjects with clefting were described (see 142983.0004-142983.0005). Four rare mutations, which were found in highly conserved noncoding regions, disrupted probable regulatory regions. Overall, MSX1 mutations were found in 2% of cases of clefting. Jezewski et al. (2003) suggested that MSX1 mutations should be considered for genetic counseling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype.
De Muynck et al. (2004) analyzed the MSX1 gene in 55 individuals from 40 families with hypodontia with or without cleft lip and/or palate and identified heterozygosity for a truncating mutation (Q187X; 142983.0006) in 3 affected members of 1 family with severe hypodontia. De Muynck et al. (2004) concluded that MSX1 mutations are not a frequent cause of familial hypodontia or cleft lip and/or palate.
Campbell et al. (1989) demonstrated that the human HOX7 (MSX1) gene was deleted in patients with Wolf-Hirschhorn syndrome (WHS; 194190), which is characterized by profound mental retardation, heart defects, and facial clefting. This may be the first demonstration of the involvement of a homeotic gene in a human developmental abnormality. Ivens et al. (1990) commented that although 2 patients with WHS showed deletion of the HOX7 locus, 2 other WHS patients did not have a deletion of this locus, nor were hybridizing fragments of altered size detected using Southern blot analysis. This did not, in their view, completely eliminate the possibility that the HOX7 gene is involved.
Nieminen et al. (2003) examined the dentition and the presence of the MSX1 gene in 8 Finnish patients with abnormalities of 4p, including 7 with Wolf-Hirschhorn syndrome. Five of the WHS patients presented with agenesis of several teeth, suggesting that oligodontia may be a common, although previously not well-documented, feature of WHS. By FISH analysis, the 5 patients with oligodontia lacked 1 copy of MSX1, whereas the other 3 had both copies. One of patients in the latter group was the only one who had cleft palate. Nieminen et al. (2003) concluded that haploinsufficiency for MSX1 serves as a mechanism that causes selective tooth agenesis but by itself is not sufficient to cause oral clefts.
Hwang et al. (1998) suggested an association between rare alleles at the MSX1 locus and isolated limb deficiency malformations. Among 34 infants with limb deficiency, the frequencies of rare MSX1 alleles were significantly higher than in 482 infants with other isolated birth defects. Infants carrying the rare allele had a 4.81-fold higher risk of a limb deficiency when the mother reported smoking during pregnancy, compared to infants who were homozygous for the common allele and whose mother did not smoke.
Satokata and Maas (1994) found that transgenic mice rendered homozygous for a nonfunctioning Msx1 gene showed cleft palate and facial and dental abnormalities.
By histologic analysis of Msx1-knockout mice, Jumlongras et al. (2001) found that not only was tooth development disrupted in these mice, but nail development was affected as well. Nail plates in Msx1-null mice were defective and were thinner than those of their wildtype littermates.
Zhang et al. (2009) observed that Osr2 (611297) -/- embryos exhibited supernumerary tooth development lingual to their molar teeth, and that this defect was largely normalized in Msx1 -/- Osr2 -/- double-mutant embryos. Zhang et al. (2009) concluded that MSX1 and OSR2 act antagonistically in tooth development.
In a family with autosomal dominant agenesis of second premolars and third molars (STHAG1; 106600), Vastardis et al. (1996) identified an arg31-to-pro (R31P) missense mutation in the homeodomain of the MSX1 gene.
Hu et al. (1998) studied the effect of the MSX1 R31P mutation by biochemical and functional analyses. Hu et al. (1998) demonstrated that MSX1 carrying the R31P mutation has perturbed structure and reduced thermostability compared with wildtype MSX1. As a consequence, the biochemical activities of MSX1(R31P) are severely impaired, since it exhibits little or no ability to interact with DNA or other protein factors or to function in transcriptional repression. Hu et al. (1998) demonstrated that MSX1(R31P) is inactive in vivo; it does not display the activities of wildtype MSX1 in assays of ectopic expression in the limb. Because MSX1(R31P) appears to be inactive and does not affect the action of wildtype MSX1, Hu et al. (1998) concluded that the phenotype of affected individuals with selective tooth agenesis is due to haploinsufficiency.
In a Dutch family with autosomal dominant tooth agenesis (STHAG1; 106600) and combinations of cleft palate only and cleft lip and cleft palate, Van den Boogaard et al. (2000) identified a C-to-A transversion at nucleotide 752 of the MSX1 gene, resulting in a ser-to-stop substitution at codon 104. The mutant phenotype in this family was similar to that of the Msx1 mutant mouse. Of 12 affected family members, 11 had tooth agenesis, and most were missing both mandibular and maxillary second premolars. Three individuals had both tooth agenesis and cleft, and 1 individual had cleft only. The mutation, which disrupted an MboII site, was identified in all affected family members but not in 3 unaffected members, and was not identified in 102 control chromosomes. Van den Boogaard et al. (2000) referred to this mutation as SER104TER.
In a 3-generation family with tooth-and-nail syndrome (189500) previously reported by Stimson et al. (1997), Jumlongras et al. (2001) found cosegregation of a ser202-to-ter nonsense mutation and Witkop syndrome. The substitution was due to heterozygosity for a C-to-A transversion at nucleotide 605 (as counted from the A of the translational start codon within the coding region) of exon 2. Of 20 family members, 9 were affected. Affected individuals had 11 to 28 congenitally missing permanent teeth (oligodontia) and dysplastic toenails and/or fingernails. Sweat glands and hair were normal in all affected individuals. The severity of the phenotype in the family was quite variable. The predominant tooth types affected were premolars, first molars, and third molars. The pedigree showed at least 2 instances of male-to-male transmission. The permanent teeth that were present appeared smaller in mesiodistal dimension and had shorter root lengths than normal teeth. Maxilla and mandible appeared to be smaller than normal. Toenails were generally more affected than fingernails. The nails were concave and easily broken. Affected members reported that they rarely had to cut their toenails. The fifth toenails appeared to be more affected than others.
In an analysis of 242 Filipinos with isolated cleft lip/palate (OFC5; 608874), Jezewski et al. (2003) identified a 233A-T transversion in the MSX1 gene, causing a glu78-to-val (E78V) change, in 1 individual with unilateral cleft lip/palate and a second with bilateral cleft lip/palate. The family history was positive for cleft lip/palate in both cases and in the second case the father was shown to be heterozygous for the mutation. The E78V mutation was identified in another Filipino patient with cleft lip only. Another member of that family was affected.
Among 110 Uruguayan patients with isolated cleft lip/palate (OFC5; 608874), Jezewski et al. (2003) found 1 with bilateral cleft lip/palate who had a 347G-A transition in the MSX1 gene, resulting in a gly116-to-glu (G116E) change. There was no family history of cleft lip/palate.
In a father and 2 children with severe hypodontia (STHAG1; 106600), De Muynck et al. (2004) identified heterozygosity for a 559C-T transition in exon 2 of the MSX1 gene, resulting in a gln187-to-ter (Q187X) substitution.
In 3 Vietnamese families with nonsyndromic cleft lip and/or palate (OFC5; 608874), Suzuki et al. (2004) found a 440C-A transversion in exon 1 of the MSX1 gene that resulted in a pro147-to-gln (P147Q) substitution. This variant resulted in variable expression and decreased penetrance. Vieira et al. (2005) tested for the MSX1 P147Q mutation in 1,468 cleft cases and found 2 with the mutation but found the variant in none of over 1,600 controls. They estimated that this specific mutation underlies approximately 0.15% of cases of apparently isolated CL/P.
Tongkobpetch et al. (2006) identified heterozygosity for the P147Q variant in 3 of 100 Thai patients with nonsyndromic CL/P, but also found the variant in 8 of 100 Thai controls. An association between the P147Q variant and CL/P could not be detected; Tongkobpetch et al. (2006) suggested that the P147Q variant is not pathogenic.
In 2 affected sibs from a large family segregating autosomal dominant isolated oligodontia (STHAG1; 106600), Lidral and Reising (2002) identified a 620T-A mutation in the MSX1 gene, resulting in a met61-to-lys (M61K) substitution. Complete concordance of the mutation with oligodontia was observed in the extended family. The mutation was not found in 80 normal control chromosomes.
In 2 sibs with autosomal dominant isolated oligodontia (STHAG1; 106600), Kim et al. (2006) identified a G duplication (g.62dupG) in exon 1 of the MSX1 gene. The extra G shifts the translation reading frame after glycine-21 so that 146 novel amino acids are substituted for the rest of the protein (p.Gly22ArgfsTer168). Thus the mutant protein would have only 167 amino acids as opposed to the normal 297, and only the first 21 would be the same as in the native protein. The mutation was associated with the absence of multiple permanent teeth, including all second bicuspids and mandibular central incisors. The mutation was not found in over 500 control individuals.
Andersson, E., Tryggvason, U., Deng, Q., Friling, S., Alekseenko, Z., Robert, B., Perlmann, T., Ericson, J. Identification of intrinsic determinants of midbrain dopamine neurons. Cell 124: 393-405, 2006. [PubMed: 16439212] [Full Text: https://doi.org/10.1016/j.cell.2005.10.037]
Blin-Wakkach, C., Lezot, F., Ghoul-Mazgar, S., Hotton, D., Monteiro, S., Teillaud, C., Pibouin, L., Orestes-Cardoso, S., Papagerakis, P., Macdougall, M., Robert, B., Berdal, A. Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals. Proc. Nat. Acad. Sci. 98: 7336-7341, 2001. [PubMed: 11390985] [Full Text: https://doi.org/10.1073/pnas.131497098]
Campbell, K., Flavin, N., Ivens, A., Robert, B., Buckingham, M., Williamson, R. The human homeobox gene HOX7 maps to 4p16.1 and is deleted in Wolf-Hirschhorn syndrome patients. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A179 only, 1989.
De Muynck, S., Schollen, E., Matthijs, G., Verdonck, A., Devriendt, K., Carels, C. A novel MSX1 mutation in hypodontia. Am. J. Med. Genet. 128A: 401-403, 2004. [PubMed: 15264286] [Full Text: https://doi.org/10.1002/ajmg.a.30181]
Gehring, W. J., Qian, Y. Q., Billeter, M., Furukubo-Tokunaga, K., Schier, A. F., Resendez-Perez, D., Affolter, M., Otting, G., Wuthrich, K. Homeodomain-DNA recognition. Cell 78: 211-223, 1994. [PubMed: 8044836] [Full Text: https://doi.org/10.1016/0092-8674(94)90292-5]
Hewitt, J. E., Clark, L. N., Ivens, A., Williamson, R. Structure and sequence of the human homeobox gene HOX7. Genomics 11: 670-678, 1991. [PubMed: 1685479] [Full Text: https://doi.org/10.1016/0888-7543(91)90074-o]
Hu, G., Vastardis, H., Bendall, A. J., Wang, Z., Logan, M., Zhang, H., Nelson, C., Stein, S., Greenfield, N., Seidman, C. E., Seidman, J. G., Abate-Shen, C. Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Molec. Cell. Biol. 18: 6044-6051, 1998. [PubMed: 9742121] [Full Text: https://doi.org/10.1128/MCB.18.10.6044]
Hwang, S.-J., Beaty, T. H., McIntosh, I., Hefferon, T., Panny, S. R. Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency. Am. J. Med. Genet. 75: 419-423, 1998. [PubMed: 9482651]
Ivens, A., Flavin, N., Williamson, R., Dixon, M., Bates, G., Buckingham, M., Robert, B. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Hum. Genet. 84: 473-476, 1990. [PubMed: 1969845] [Full Text: https://doi.org/10.1007/BF00195823]
Jezewski, P. A., Vieira, A. R., Nishimura, C., Ludwig, B., Johnson, M., O'Brien, S. E., Daack-Hirsch, S., Schultz, R. E., Weber, A., Nepomucena, B., Romitti, P. A., Christensen, K., Orioli, I. M., Castilla, E. E., Machida, J., Natsume, N., Murray, J. C. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J. Med. Genet. 40: 399-407, 2003. [PubMed: 12807959] [Full Text: https://doi.org/10.1136/jmg.40.6.399]
Jumlongras, D., Bei, M., Stimson, J. M., Wang, W.-F., DePalma, S. R., Seidman, C. E., Felbor, U., Maas, R., Seidman, J. G., Olsen, B. R. A nonsense mutation in MSX1 causes Witkop syndrome. Am. J. Hum. Genet. 69: 67-74, 2001. [PubMed: 11369996] [Full Text: https://doi.org/10.1086/321271]
Kim, J.-W., Simmer, J. P., Lin, B. P.-J., Hu, J. C.-C. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J. Dent. Res. 85: 267-271, 2006. [PubMed: 16498076] [Full Text: https://doi.org/10.1177/154405910608500312]
Lee, H., Habas, R., Abate-Shen, C. Msx1 cooperates with histone H1b for inhibition of transcription and myogenesis. Science 304: 1675-1678, 2004. [PubMed: 15192231] [Full Text: https://doi.org/10.1126/science.1098096]
Lee, H., Quinn, J. C., Prasanth, K. V., Swiss, V. A., Economides, K. D., Camacho, M. M., Spector, D. L., Abate-Shen, C. PIAS1 confers DNA-binding specificity on the Msx1 homeoprotein. Genes Dev. 20: 784-794, 2006. [PubMed: 16600910] [Full Text: https://doi.org/10.1101/gad.1392006]
Lidral, A. C., Reising, B. C. The role of MXS1 in human tooth agenesis. J. Dent. Res. 81: 274-278, 2002. [PubMed: 12097313] [Full Text: https://doi.org/10.1177/154405910208100410]
Nieminen, P., Kotilainen, J., Aalto, Y., Knuutila, S., Pirinen, S., Thesleff, I. MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J. Dent. Res. 82: 1013-1017, 2003. [PubMed: 14630905] [Full Text: https://doi.org/10.1177/154405910308201215]
Odelberg, S. J., Kollhoff, A., Keating, M. T. Dedifferentiation of mammalian myotubes induced by msx1. Cell 103: 1099-1109, 2000. [PubMed: 11163185] [Full Text: https://doi.org/10.1016/s0092-8674(00)00212-9]
Robert, B., Sassoon, D., Jacq, B., Gehring, W., Buckingham, M. Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis. EMBO J. 8: 91-100, 1989. [PubMed: 2565810] [Full Text: https://doi.org/10.1002/j.1460-2075.1989.tb03352.x]
Satokata, I., Maas, R. Msx1 deficient mice exhibited cleft palate and abnormalities of craniofacial and tooth development. Nature Genet. 6: 348-355, 1994. [PubMed: 7914451] [Full Text: https://doi.org/10.1038/ng0494-348]
Scarel, R. M., Trevilatto, P. C., Di Hipolito, O., Jr., Camargo, L. E. A., Line, S. R. P. Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia. Am. J. Med. Genet. 92: 346-349, 2000. [PubMed: 10861665] [Full Text: https://doi.org/10.1002/1096-8628(20000619)92:5<346::aid-ajmg10>3.0.co;2-a]
Stimson, J. M., Sivers, J. E., Hlava, G. L. Features of oligodontia in three generations. J. Clin. Pediat. Dent. 21: 269-275, 1997. [PubMed: 9484139]
Suzuki, Y., Jezewski, P. A., Machida, J., Watanabe, Y., Shi, M., Cooper, M. E., Viet, L. T., Tin, N. T. D., Hai, H., Natsume, N., Shimozato, K., Marazita, M. L., Murray, J. C. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet. Med. 6: 117-125, 2004. [PubMed: 15354328] [Full Text: https://doi.org/10.1097/01.gim.0000127275.52925.05]
Tongkobpetch, S., Siriwan, P., Shotelersuk, V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J. Hum. Genet. 51: 671-676, 2006. [PubMed: 16868654] [Full Text: https://doi.org/10.1007/s10038-006-0006-4]
van den Boogaard, M.-J. H., Dorland, M., Beemer, F. A., Ploos van Amstel, H. K. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (Letter) Nature Genet. 24: 342-343, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000. [PubMed: 10742093] [Full Text: https://doi.org/10.1038/74155]
Vastardis, H., Karimbux, N., Guthua, S. W., Seidman, J. G., Seidman, C. E. A human MSX1 homeodomain missense mutation causes evidence tooth agenesis. Nature Genet. 13: 417-421, 1996. [PubMed: 8696335] [Full Text: https://doi.org/10.1038/ng0896-417]
Venza, I., Visalli, M., Parrillo, L., De Felice, M., Teti, D., Venza, M. MSX1 and TGF-beta-3 are novel target genes functionally regulated by FOXE1. Hum. Molec. Genet. 20: 1016-1025, 2011. [PubMed: 21177256] [Full Text: https://doi.org/10.1093/hmg/ddq547]
Vieira, A. R., Avila, J. R., Daack-Hirsch, S., Dragan, E., Felix, T. M., Rahimov, F., Harrington, J., Schultz, R. R., Watanabe, Y., Johnson, M., Fang, J., O'Brien, S. E., Orioli, I. M., Castilla, E. E., FitzPatrick, D. R., Jiang, R., Marazita, M. L., Murray, J. C. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 1: e64, 2005. Note: Electronic Article. [PubMed: 16327884] [Full Text: https://doi.org/10.1371/journal.pgen.0010064]
Zhang, Z., Lan, Y., Chai, Y., Jiang, R. Antagonistic actions of Msx1 and Osr2 pattern mammalian teeth into a single row. Science 323: 1232-1234, 2009. [PubMed: 19251632] [Full Text: https://doi.org/10.1126/science.1167418]