Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

Human Genetics

Volumn 110, Issue 4, 2002, Pages 371-376

  Das, Parimal ^a   Stockton, David W ^a   Bauer, Christopher ^a   Shaffer, Lisa G ^a   D'Souza, Rena N ^b   Wright, J Timothy ^c   Patel, Pragna I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 14; COSMID; DISEASE SEVERITY; FAMILY; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC MODEL; HEMIZYGOSITY; HUMAN; HYPODONTIA; MALE; MICROSATELLITE MARKER; MOLAR TOOTH; PAIRED BOX GENE 9; PRIORITY JOURNAL; PROGENY; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ANODONTIA; BASE SEQUENCE; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PAX9 TRANSCRIPTION FACTOR; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 0036556243     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0699-1     Document Type: Article

References (25)

1. Ahmad W, Brancolini V, Faiyaz-Ul-Haque M, Lam H, Ul Haque S, Haider M, Maimon A, Aita V, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J, Christiano AM (1998) A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. Am J Hum Genet 62:987-991
2. Anderson MA, Gusella JR (1984) The use of cyclosporin A in establishing EBV-transoformed human lymphoblastoid cell lines. In Vitro 20:856-858
3. Arte S, Nieminen P, Pirinen S, Thesleff I, Pelton L (1996) Gene defect in hypodontia: Exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res 76:1346-1352
4. Brook AH (1984) A unifying aetiological explanation for anomalies of human tooth number and size. Arch Oral Biol 29:373-378
5. Burzynski NJ, Escobar VH (1986) Classification and genetics of numeric anomalies of dentition. Birth Defects of Orig Article Ser 19:95-106
6. Dahlberg AA (1937) Inherited congenital absence of six incisors, deciduous and permanent. J Dent Res 16:59-62
7. Fiermonte G, Dolce V, Palmieri L, Ventura M, Runswick MJ, Palmieri F, Walker JE (2001) Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. J Biol Chem 276:8225-8230
8. Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN (2000) Clinical, radiographic and genetic evaluation of a novel form of autosomal oligodontia. J Dent Res 79:1469-1475
9. Grahnen HJ (1956) Hypodontia in the permanent dentition. Odontologisk Revy 7:1
10. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI (1996) Molecular analysis of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007
11. Kamnasaran DO, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW (2001) Defining the breakpoints of proximal chromosomes 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet 102:173-182
12. Liu W, Wang H, Zhao S, Zhao W, Bai S, Zhao Y, Xu S, Wu C, Huang W, Chen Z, Feng G, He L (2001) The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2. J Dent Res 80:1716-1720
13. Nieminen P, Arte S, Pirinen S, Peltonen L, Thesleff I (1995) Gene defect in hypodontia: Exclusion of MSX1 and MSX2 as candidate genes. Hum Genet 96:305-308
14. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S (2001) Identification of a nonsense mutation in the PAX9 gen in molar oligodontia. Eur J Hum Genet 9:743-746
15. Pabst O, Herbrand H, Arnold HH (1998) Nkx2-9 is a novel homeobox transcription factor which demarcates ventral domains in the developing mouse CNS. Mech Dev 73:85-93
16. Peters H, Neubuser A, Kratochwil K, Balling R. (1998) Pax-9 deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 12:2735-2747
17. Read AP (1995) Pax genes - Paird feet in three camps. Nat Genet 9:333-334
18. Sambrook J, Frisch EF, Maniatis T (1989) Molecular Cloning: Laboratory Manual, 2nd edn. Cold Spring Harbor, N.Y.
19. Santagati F, Gerber J-K, Blusch JH, Kokubu C, Peters H, Adamski J, Werner T, Balling R, Imai K (2001) Comparative analysis of the genomic organization of Pax9 and its conserved physical association with Nkx2-9 in the human mouse, and pufferfish genomes. Mamm Genome 12:232-237
20. Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P (1999) De novo deletion (14)(q11.2q13) including PAX9: Clinical and molecular findings. J Med Genet 36:233-236
21. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000) Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19
22. Underhill DA (2000) Genetic and biochemical diversity in the Pax gene family. Biochem Cell Biol 78:629-638
23. Vastardis H (2000) The genetics of human booth tooth agenesis: New discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 117:650-656
24. Vastardis H, Karimbux N, Guthua SW, Seidman IG, Seidman CE (1996) A human MSX 1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13:417-421
25. Walther C, Guenet JL, Simon D, Deutsch U, Jostes B, Goulding MD, Plachov D, Balling R, Gruss P (1991) Pax: A murine multigene family of paired box-containing genes. Genomics 11:424-434