Literature DB >> 2045114

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

D J Epstein1, D Malo, M Vekemans, P Gros.   

Abstract

We have used a set of markers newly assigned to the proximal portion of mouse chromosome 1 to characterize the chromosomal segment deleted in the splotch-retarded (Spr) mouse mutant. Among nine markers tested in the heterozygote Spr/+mouse, we have identified four genes, Vil, Des, Inha, and Akp-3, which map within the Spr deletion. The closest distal marker to the deletion is the Acrg gene, with the distal deletion breakpoint mapping within the 0.8-cM segment separating Akp-3 and Acrg. The most proximal gene to the Spr deletion is Tp1. The proximal deletion breakpoint maps within the 0.8-cM segment separating Tp1 and Vil. The minimum size of the Spr deletion would therefore be limited to 14 cM, the genetic distance between Vil and Akp-3. The maximum size of the Spr deletion is estimated to be 16 cM, the genetic distance between Tp1 and Acrg.

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Year:  1991        PMID: 2045114     DOI: 10.1016/0888-7543(91)90488-z

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  14 in total

Review 1.  Mouse chromosome 1.

Authors:  M F Seldin
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.

Authors:  C E Moase; D G Trasler
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

3.  Genes for tensin, villin and desmin are linked on mouse chromosome 1.

Authors:  S A Jankowski; D L Gumucio
Journal:  Mamm Genome       Date:  1995-10       Impact factor: 2.957

4.  Pax-3 contains domains for transcription activation and transcription inhibition.

Authors:  G Chalepakis; F S Jones; G M Edelman; P Gruss
Journal:  Proc Natl Acad Sci U S A       Date:  1994-12-20       Impact factor: 11.205

5.  Pax-3-DNA interaction: flexibility in the DNA binding and induction of DNA conformational changes by paired domains.

Authors:  G Chalepakis; J Wijnholds; P Gruss
Journal:  Nucleic Acids Res       Date:  1994-08-11       Impact factor: 16.971

Review 6.  Human neural tube defects: developmental biology, epidemiology, and genetics.

Authors:  Eric R Detrait; Timothy M George; Heather C Etchevers; John R Gilbert; Michel Vekemans; Marcy C Speer
Journal:  Neurotoxicol Teratol       Date:  2005-03-05       Impact factor: 3.763

Review 7.  Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.

Authors:  Jennifer D Kubic; Kacey P Young; Rebecca S Plummer; Anton E Ludvik; Deborah Lang
Journal:  Pigment Cell Melanoma Res       Date:  2008-12       Impact factor: 4.693

8.  Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

Authors:  L A Farrer; K S Arnos; J H Asher; C T Baldwin; S R Diehl; T B Friedman; J Greenberg; K M Grundfast; C Hoth; A K Lalwani
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

9.  Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Authors:  C F Hoth; A Milunsky; N Lipsky; R Sheffer; S K Clarren; C T Baldwin
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

10.  The Splotch (Sp1H) and Splotch-delayed (Spd) alleles: differential phenotypic effects on neural crest and limb musculature.

Authors:  T Franz
Journal:  Anat Embryol (Berl)       Date:  1993-04
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