splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

Cell

Volumn 67, Issue 4, 1991, Pages 767-774

  Epstein, Douglas J ^a   Vekemans, Michel ^a   Gros, Philippe ^b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA BINDING PROTEIN; DNA BINDING PROTEINS; OLIGONUCLEOTIDE; PAX 3 PROTEIN; PAX-3 PROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHEMISTRY; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME MAP; GENETIC LINKAGE; GENETICS; HOMEOBOX; MOLECULAR GENETICS; MOUSE; NEURAL TUBE DEFECT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; STRUCTURAL GENE; CENTRAL NERVOUS SYSTEM; EMBRYO; GENE DELETION; MUTATION; NERVOUS SYSTEM DEVELOPMENT; NEURAL TUBE; NONHUMAN; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; DNA; DNA-BINDING PROTEINS; GENES, HOMEOBOX; GENES, STRUCTURAL; LINKAGE (GENETICS); MICE; MOLECULAR SEQUENCE DATA; NEURAL TUBE DEFECTS; OLIGONUCLEOTIDES; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

EID: 0025925068     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(91)90071-6     Document Type: Article

References (47)

1. Current status of the ABO-Waardenburg syndrome type 1 linkage
2. Mouse and hamster mutants as models for Waardenburg syndromes in humans
3. Waardenburg syndrome (WS): the analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q
4. Analysis of the developmental effects of a lethal mutation in the house mouse
5. Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1
6. Mutations at the Sp locus
7. Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila
8. Isolation of two tissue-specific Drosophila paired box genes, Pox meso and Pox neuro
9. Conservation of the paired domain in metazoans and its structure in three isolated human genes
10. The molecular basis of the undulated/Pax-1 mutation
11. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
12. The embryonic development of mammalian neural tube defects
13. Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development
14. New splotch alleles in the mouse
15. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system
16. Cell adhesion molecules in the regulation of animal form and tissue pattern
17. Temporal trends in the prevalence of congenital malformations at birth based on the Birth Defects Monitoring Program, United States, 1979–1987
18. Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1
19. A splotch locus deletion visible by Giemsa banding
20. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse
21. Persistent truncus arteriosus in the splotch mutant mouse
22. Defective ensheathment of motoric nerves in the splotch mutant mouse
23. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
24. Identification of positive and negative regulatory elements governing cell-type-specific expression of the neural cell adhesion molecule gene
25. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)
26. The murine paired box gene, Pax 7, is expressed specifically during the development of the nervous and muscular system
27. Murine developmental control genes
28. Crystal structure of an engrailed homeodomain-DNA complex at 2.8 Å resolution: a framework for understanding homeodomain-DNA interactions
29. Migration and differentiation of neural crest cells
30. 2-subunit gene (Atpb-2) to mouse chromosome 11
31. The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin
32. Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant
33. d mouse neural tube explants
34. N-CAM alterations in splotch neural tube defect mouse embryos
35. Functional dissection of the paired segmentation gene in Drosophila embryos
36. Spatially and temporally restricted expression of Pax2 during murine neurogenesis
37. Myogenin is in an evolutionarily conserved linkage group on human chromosome 1q31-q41 and unlinked to other mapped muscle regulatory factor genes
38. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland
39. Splotch, a new mutation in the house mouse Mus musculus
40. DNA sequencing with chain-terminating inhibitors
41. DNA binding by proteins
42. Mapping of Co/3a1 and Co/6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q
43. Mapping of mouse gamma crystallin genes on chromosome 1
44. Linkage of loop-tail leaden splotch and fuzzy in the mouse
45. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian ear
46. The paired box encodes a second DNA-binding domain in the paired homeo domain protein