Literature DB >> 7981748

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

P Stapleton1, A Weith, P Urbánek, Z Kozmik, M Busslinger.   

Abstract

In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a polymerase chain reaction fragment for PAX-4. PAX-9 is a novel family member which is closely related in its paired domain to PAX-1. The chromosomal location of all cloned PAX genes was determined by analysis of somatic cell hybrids and (except PAX-4) by fluorescence in situ hybridization to metaphase chromosomes. PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci.

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Year:  1993        PMID： 7981748     DOI： 10.1038/ng0493-292

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  43 in total

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2.  Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

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3.  Case report: identical twins revealing discordant hypodontia. The rationale of dental arch differences in monozygotic twins.

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4.  Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma.

Authors:  M Busslinger; N Klix; P Pfeffer; P G Graninger; Z Kozmik
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-11       Impact factor: 11.205

Review 5.  The molecular causes of thyroid dysgenesis: a systematic review.

Authors:  I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
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6.  Pax9 regulates a molecular network involving Bmp4, Fgf10, Shh signaling and the Osr2 transcription factor to control palate morphogenesis.

Authors:  Jing Zhou; Yang Gao; Yu Lan; Shihai Jia; Rulang Jiang
Journal:  Development       Date:  2013-10-30       Impact factor: 6.868

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Authors:  S Plaza; C Dozier; M C Langlois; S Saule
Journal:  Mol Cell Biol       Date:  1995-02       Impact factor: 4.272

8.  Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

Authors:  A Raas-Rothschild; S Manouvrier; M Gonzales; J P Farriaux; S Lyonnet; A Munnich
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

9.  Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.

Authors:  J F Deleuze; S Dhorne; J Hazan; E Borghi; N Raynaud; N Pollet; M Meunier-Rotival; J Deschatrette; D Alagille; M Hadchouel
Journal:  Mamm Genome       Date:  1994-11       Impact factor: 2.957

10.  A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

Authors:  Dolrudee Jumlongras; Jenn-Yih Lin; Anas Chapra; Christine E Seidman; Jonathan G Seidman; Richard L Maas; Bjorn R Olsen
Journal:  Hum Genet       Date:  2003-12-19       Impact factor: 4.132
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