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Biomedical subjects

K Huppi

Publications and source records attributed to K Huppi.

At least 73 records · Page 4Linked to original sources
PubMed1988

The Ig kappa L chain allelic groups among the Ig kappa haplotypes and Ig kappa crossover populations suggest a gene order.

The Ig kappa complex locus of inbred mice found on chromosome 6 contains one constant (C kappa), five joining (J kappa), and 100 to 300 variable (V kappa) exons and spans an estimated 500 to 2000 kbp of DNA. The V kappa exons are organized into groups of highly homologous coding regions (approximately 300 bp) separated by approximately 10 kbp of intervening sequence. A group contains from 1 to 30 or more exons (exon refers to uninterrupted coding region DNA which is capable of encoding all or part of V kappa gene) that can be detected with specific DNA probes in conjunction with restriction endonuclease fragments (REF) from genomic DNA. Thirteen DNA probes specific for different V kappa exon groups and one DNA probe specific for J kappa and C kappa exons were used in conjunction with 55 inbred strains in an attempt to detect RFLP that could be used to establish Ig kappa allelic groups and Ig kappa haplotypes. Each probe detected two to four different REF patterns (allelic groups) among the panel of inbred mice examined. Size estimates of the REF were made, and each probe detected 4.2 to 107.7 kbp of DNA, including faint REF, 675.6 to 723.6 kbp of DNA could be detected within a single haplotype. Based on these allelic groups, seven haplotypes were identified among the 55 inbred strains of mice. No subline differences were detected, and the distribution of allelic groups implied common ancestry among many of the inbred strains examined. The DNA probes were also used in conjunction with recombinant inbred, congenic strains and backcross populations of mice. By using the analysis of known Ig kappa r populations, and assuming a common ancestry among the inbred strains, a gene order was predicted: Centromere-Hd-(Ig kappa-V11, Ig kappa-V24, Ig kappa-V9-26)-(Ig kappa-V1, Ig kappa-V9)-(Ig kappa-V4, Ig kappa-V8, Ig kappa-V10, Ig kappa-V12, 13, Ig kappa-V19)-(Ig kappa-V28, Rn7s-6)-Ig kappa-V23-(Ig kappa-V21, Ig kappa-J, Ig kappa-C)-(Ly2, Ly3)-wa-1.

Alleles↗
PubMed1988

Myc-1 is centromeric to the linkage group Ly-6--Sis--Gdc-1 on mouse chromosome 15.

A survey of wild mouse DNA with a c-myc exon 1 probe revealed a Taq I restriction fragment length polymorphism (RFLP) among Mus species. As a result of this Taq I RFLP, a cross between Mus musculus domesticus and BALB/cJ permitted the positioning of Myc-1 on chromosome 15 with respect to Ly-6, Sis, and Gdc-1. Compilation of the recombination frequency generated from this cross with published cytogenetic and plasma-cytoma somatic cell hybrid data suggests the following chromosome 15 orientation: centromere--Myc-1--Ly-6--Sis--Gdc-1--telomere. This gene order is consistent with conservation of man-mouse synteny.

Animals↗
PubMed1988

Genes on chromosomes 1 and 4 in the mouse are associated with repair of radiation-induced chromatin damage.

Early-passage skin fibroblasts from different inbred and congenic strains of mice were X-irradiated (1 Gy), and the number of chromatid breaks was determined at 2.0 h after irradiation. The cells from DBA/2N, C3H/HeN, STS/A, C57BL/6N, BALB/cJ, and AKR/N had 25 to 42 chromatid breaks per 100 metaphase cells (efficient repair phenotype). NZB/NJ had greater than 78 and BALB/cAn had 87 to 110 chromatid breaks per 100 cells (inefficient repair phenotype). Differences between BALB/cAn and BALB/c. DBA/2 congenic strains which carry less than 1% of the DBA/2 genome indicate that two genes, one on chromosome 1 linked to bcl-2-Pep-3 and the other on chromosome 4 closely linked to Fv-1, affect the efficiency with which the cells repair radiation-induced chromatin damage.

Animals↗
PubMed1988

Chromosomal location of the regulator of mouse alpha-fetoprotein, Afr-1.

Afr-1 is a gene whose product contributes to the adult regulation of mouse alpha-fetoprotein (AFP). In Afr-1b/b homozygotes, the adult serum levels of AFP are 10- to 20-fold higher than in Afr-1a/a or Afr-1a/b mice. The studies reported here were performed to map the Afr-1 gene. Our results show that Afr-1 resides on mouse chromosome 15, approximately 25 cM from Gdc-1. Afr-1 appears to be located in close proximity to the mouse c-myc oncogene. These results are discussed with respect to the susceptibility or resistance of different BALB/c sublines (which are either Afr-1a or Afr-1b, respectively) to pristane-induced plasmacytomas.

Animals↗
PubMed1988

Genes that modify expression of major urinary proteins in mice.

A survey of major urinary proteins (MUPs) from eight BALB/c mouse substrains by isoelectric focusing identified a common pattern with about 10 protein bands in males. One substrain, BALB/cJPt, differed in that it expressed two variant MUP patterns, designated 4.1lo and null. To find the chromosomal location of the gene which determines the 4.1lo phenotype, BALB/cJPt-MUP-4.1lo was crossed with a wild-derived Mus musculus domesticus inbred strain (CLA) that expresses the common BALB/c MUP pattern. The F1 phenotype revealed that the gene(s) controlling the MUP-4.1lo trait was recessive. A restriction fragment polymorphism between these strains found with a MUP cDNA probe allowed us to establish that a gene determining the MUP-4.1lo trait was not linked to the MUP structural genes on chromosome 4. Assays for other chromosomal marker loci revealed that a gene determining the MUP-4.1lo trait, designated Mupm-1, was closely linked to Myc-1 on chromosome 15. To determine the genetic basis of the null trait, BALB/cJPt-MUP-null mice were crossed with BALB/cJPt-MUP-4.1lo mice. A MUP restriction fragment polymorphism between these two lines was tightly linked to a gene or genes involved in determining the MUP-null phenotype. The two variant MUP phenotypes in BALB/cJ mice are determined by separate genes, one of which is located on chromosome 4 and the other on chromosome 15. The chromosomal location of Mupm-1 suggests that it produces a trans-acting factor which regulates MUP expression.

Animals↗
PubMed1988

Mapping of the bcl-2 oncogene on mouse chromosome 1.

Two bcl-2 alleles have been identified in inbred strains of mice by restriction fragment length polymorphism (RFLP). Analysis of a bcl-2 RFLP in a series of bilineal congenic strains (C.D2), developed as a tool for chromosomal mapping studies, revealed linkage of bcl-2 to the Idh-1/Pep-3 region of murine chromosome 1. The co-segregation of bcl-2 alleles with allelic forms of two other chromosome 1 loci, Ren-1,2 and Spna-1, in a set of back-cross progeny, positions bcl-2 7.8 cM centromeric from Ren-1,2.

Animals↗
PubMed1988

Genetic and environmental control of diabetes induction by multi-dose streptozotocin in two BALB/c substrains.

BALB/cJ male mice were resistant and BALB/cByJ males were susceptible to induction of diabetes by multi-dose streptozotocin (MSz). Although both closely-related BALB/c substrains expressed H-2d haplotype, they could be differentiated by allelic differences at three genetic loci [Qa-2 (Chr 17), Bcd-1 (Chr 5), and Afr-1]. (BALB/cJ X BALB/cByJ)F1 males inherited the BALB/cJ resistance phenotype in a dominant fashion, thereby eliminating the BALB/cJ-expressed Afr-1b (recessive) allele as the susceptibility locus. Backcross of F1 mice to the susceptible BALB/cByJ strain produced a 1:1 segregation of susceptible and resistant (F1-like) phenotypes, suggesting that susceptibility was controlled by a single recessive gene. No linkage was found between the putative susceptibility gene and the mutant BALB/cByJ Qa-2,3 gene linked to the H-2 complex or with the mutant Bcd-1c allele. Since the resistant F1 males expressed low levels of androgen-dependent mouse urinary protein characteristic of the resistant BALB/cJ parental strain, the possibility was discussed that the alleles controlling sensitivity to MSz also controlled tissue sensitivity to endogenous androgens. An environmental effect on phenotype expression was indicated when BALB/cByJ males obtained from a colony free of pneumonia virus of mice (PVM) showed an attenuated rate of response to hyperglycemia induction in comparison to males obtained previously from an enzootically infected colony.

Alleles↗
PubMed1987

Tandem linkage and unusual RNA splicing of the T-cell receptor beta-chain variable-region genes.

The variable-region (V) genes of the murine T-cell receptor beta chain exist largely as single-element subfamilies. The V beta 5 and V beta 8 genes belong to the only two known three-member V beta subfamilies. We present studies on the linkage of these six genes and show that the genomic organization is that of alternating V beta 5 and V beta 8 genes. Our analysis suggests that these genes were tandemly duplicated, the unit of duplication being a pair of V beta 5 and V beta 8 genes. This tandem organization permits transcripts to initiate from the promoter of an unrearranged V beta located upstream of the rearranged V beta gene. These transcripts can generate functional beta-chain gene messages by novel RNA splicing of the upstream leader exon to the V beta coding exon of the downstream rearranged gene. We extend the analysis of the T-cell receptor genomic organization to include 12 V beta genes and suggest that all V beta genes are closely linked on chromosome 6. In addition, we discuss the possible implications of the close linkage of the V beta genes on the development of the T-cell receptor beta-chain gene repertoire.

Amino Acid Sequence↗
PubMed1987

A mouse homeo box gene, Hox-1.5, and the morphological locus, Hd, map to within 1 cM on chromosome 6.

Mo-10, a homeo box-containing sequence in the Hox-1 complex of genes referred to as Hox-1.5, was found to be polymorphic in inbred and wild mice, and a strain distribution of three allelic forms of Hox-1.5 are reported. The position of Hox-1.5 was mapped in backcross experiments to within 1 cM of the hypodactyly locus on chromosome 6. This identifies the Hd mutation as a useful model for the examination of homeo box expression during mammalian development.

Animals↗