Gene: [07p13/GLI3] GLI-Kruppel family member GLI3; chromatin-associated GLI-phosphoprotein 3; zinc finger oncoprotein GLI3; Pallister-Hall syndrome (MIM:146510); Greig craniopolysyndactyly syndrome (MIM:175700); postaxial polydactyly, type A1 (MIM:174200); [PHS GCPS ]


MUT

[1] Vortkamp-1991 demonstrated that 2 of 3 translocations found to be associated with GCPS interrupt the GLI3 gene. The breakpoints were within the first third of the coding sequence. In the third translocation, Chr 7 was broken at about 10 kb downstream of the 3-prime end of GLI3."

PAT

[1] Pallister-Hall syndrome is inherited as autosomal dominant trait and has been mapped to Chr 7p13 by Kang-1996. Later Kang-1997 revealed GLI3 frameshift mutations that cause Pallister-Hall syndrome. Main features: hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly.
[2] Postaxial polydactyly is about 10 times more frequent in blacks than in Caucasians (Frazier-1960). From the study of various pedigrees of postaxial polydactyly, it is suggested that 2 phenotypically and possibly genetically different varieties exist. In type A, the extra digit is rather well formed and articulates with the fifth or an extra metacarpal. This type is inherited as a dominant trait with marked penetrance. In postaxial polydactyly type B (pedunculated postminimi), the extra digit is not well formed and is frequently in the form of a skin tag. The genetics of this type is more complicated. Ventruto-1980 studied an Italian family in which some individuals had both types A and B on different limbs. Consequently they questioned the proposed genetic distinctness of the 2 types."

CAG

Another locus for postaxial polydactyly type A (A2) is mapped to Chr 13q: GEM:13q/PAPA2."

FAG

About the multigene family GLI-Kruppel, see GEM:19^/HKR1. This group of GLI oncophosphoproteins belongs to the superfamily of DNA-binding proteins (FAM:CHRBP/00.0), together with HKR and ZNF proteins."

REF

PAT,LOC,LIN "Brueton L &: Am J Med Genet, 31, 799-804, 1988
PAT,FOG "Frazier TM: Am J Obstet Gynecol, 80, 184-185, 1960
PAT,PHE,REV "Gollop TR, Fontes LR: Am J Med Genet, 22, N1, 59-68, 1985
MUT "Kang S &: Nature Genet, 15, N3, 266-268, 1997
LOC "Kang S &: AJHG, 59, A81, 1996
PAT,FOG "Kucheria K &: Clin Genet, 20, 36-39, 1981
PAT,FOG "Kuller JA &: Am J Med Genet, 43, 647-650, 1992
PAT,LOC "Pelz L &: Helv Paediat Acta, 41, 381, 1986
PAT,LOC,LIN "Radhakrishna U &: AJHG, 60, 597-604, 1997a
MUT "Radhakrishna U &: Nature Genet, 17, N3, 269-271, 1997b
CLO,SEQ,LOC,FAG,PRO "Ruppert JM &: Mol Cell Biol, 8, 3104-3113, 1988
PAT,LOC "Tommerup N, Nielsen: Am J Med Genet, 16, 313-321, 1983
PAT,CAG,FOG "Ventruto V &: Clin Genet, 18, 342-347, 1980
PAT,MUT "Vortkamp A &: Nature, 352, 539-540, 1991
MUT "Wild A &: Hum Mol Genet, 6, N11, 1979-1984, 1997

SWI

SWISSPROT: P10071

KEY

ont, onc, devd, bone

CLA

coding, basic

LOC

07 p13

MIM

MIM: 165240

SYN

PHS GCPS

Смотрите также:

  • Gene family: DNA-binding multifinger proteins; (@GLI @HKR @ZNF EGR1 EGR2 EGR3 EGR4)
  • Gene superfamily: multifinger GLI-proteins gene family; (GLI1 GLI2 GLI3)