TY  - JOUR
A1  - Schwartz, Faina
A1  - Neve, Rachel
A1  - Eisenman, Robert
A1  - Gessler, Manfred
A1  - Bruns, Gail
T1  - A WAGR region gene between PAX-6 and FSHB expressed in fetal brain
N2  - Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain formation or function. We have identified a highly conserved locus in the distal part of 11 p 13 that is prominently expressed in fetal brain. Minimal expression is observed in a number of other fetal tissues. The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. Within fetal brain, the corresponding transcript is prominent in frontal, motor and primary visual cortex as weil as in the caudate-putamen. The characteristics of this gene, including the striking evolutionary conservation at the locus, suggest that the encoded protein may function in brain development.
KW  - Biochemie
Y1  - 1994
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59125
ER  - 
TY  - JOUR
A1  - Schwarz, Klaus
A1  - Hameister, Horst
A1  - Gessler, Manfred
A1  - Grzeschik, Karl-Heinz
A1  - Hansen-Hagge, Thomas E.
A1  - Bartram, Claus R.
T1  - Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13
N2  - The human recombination activating gene 1 (RAGl) has previously been mapped to chromosomes 14q and 11 p. Here we confirm the chromosome 11 assignment by two independent approaches: autoradiographic and fluorescence in situ hybridization to metaphase spreads and analysis of human-hamster somatic cell hybrid DNA by the polymerase chain reaction (PCR) and Southern blotting. Our results unequivocally localize RAG1 to llp13.
KW  - Biochemie
Y1  - 1994
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59136
ER  -