Biomedical subjects

U Kuhnlein

Publications and source records attributed to U Kuhnlein.

43 records · Page 3Linked to original sources

PubMed1978

Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts.

Uracil DNA N-glycosidase, an enzyme which participates in the excision of uracil from DNA, was measured in extracts from fibroblasts lines cultured from normal subjects, from several subjects with the genetic disease xeroderma pigmentosum, and from a subject with ataxia telangiectasia. The cell lines representative of complementation groups A and D of xeroderma pigmentosum and of ataxia telangiectasia had roughly the same level of activity as did the normal cells. On the other hand, cells from two xeroderma pigmentosum variants (XP4BE and XP13BE) had roughly half the normal level of activity, and cells from the heterozygous mother of XP4BE had an intermediate level of activity. In spite of these quantitative differences, no systematic alterations in reaction characteristics, apparent Km for substrate, or purification characteristics were noted for enzyme from any of the lines. Thus a causal relationship, if any, between levels of activity and the disease symptoms is equivocal.

Apurinic Acid↗

PubMed1978

Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km.

Apurinic DNA endonuclease activity from cultured human fibroblasts was resolved into two species by phosphocellulose chromatography. The species had sedimentation coefficients of 3.3 S and 2.8 S and apparent Km's for apurinic sites of 5 and 44 nM, respectively. The low Km species was absent from extracts of cell lines XP5BE, XP6BE and XP7BE of xeroderma pigmentosum complementation group D.

Apurinic Acid↗

PubMed1976

An altered apurinic DNA endonuclease activity in group A and group D xeroderma pigmentosum fibroblasts.

Endonuclease activity upon depurinated DNA was measured in extracts of cultured fibroblasts from xeroderma pigmentosum patients. Cell lines from complementation groups A, B, C, E, and the XP-variant had slightly reduced levels of activity, but cell lines from complementation group D had one-sixth of the normal activity. An altered pH dependence and a higher apparent Km for substrate in D-cell lines indicate that the remaining activity is also qualitatively different from the activity found in normal cells. A higher Km was also found in cell lines from the A-complementation group but not in cell lines from the C-complementation group. These defects in apurinic DNase might account for the neurological disorders in patients from the D- and the A-complementation groups.

Apurinic Acid↗

PubMedDate not supplied

Evidence for a genetic variation in the mitochondrial genome affecting traits in White Leghorn chickens.

A mitochondrial Mspl RFLP which was coselected with Marek's disease (MD) resistance in White Leghorn chickens was mapped to the NADH subunit IV. The RFLP was due to a transition, resulting in the change of the low-usage threonine triplet ACT (Mspl- allele) to the high usage triplet ACC (Mspl+ allele). Trait association studies within an unselected strain revealed that the Mspl- allele whose frequency was reduced in MD resistant strains was associated with high body weight and high egg specific gravity (a measure of eggshell thickness). Analysis at three different time points indicated a significant interaction between the mitochondrial genotype and the growth hormone genotype in early but not in late adulthood. The analysis indicates that mitochondrial variants may contribute to phenotypic variation in chickens and that such contributions may be dependent on the genetic background.

Animals↗

PubMedDate not supplied

A genetic marker in the growth hormone receptor gene associated with body weight in chickens.

A genomic clone spanning 16 kb of the GH receptor gene was mapped and used as a probe for identifying restriction fragment length polymorphisms (RFLPs) in chickens. Several strains of meat-type and egg laying chickens were found to segregate for an HindIII RFLP located in the intron preceding exon 4. The polymorphic HindIII site overlapped with a poly(A) signal. Association of the HindIII RFLP with traits was analyzed in a random-bred White Leghorn strain in three generations using either selective or random genotyping. Both methods revealed significant association of the HindIII+ allele (presence of the poly(A) signal) with an increased juvenile body weight (130 days of age). In two meat-type strains divergently selected for size of the abdominal fat pad, the HindIII+ allele was coselected with leanness. The results indicate the presence of a genetic variant of the GH receptor gene which affects growth and abdominal fat deposition and which is relatively frequent in egg laying as well as in meat-type chickens.

Animals↗

PubMedDate not supplied

Markers within the regulatory region of the growth hormone receptor gene and their association with milk-related traits in Holsteins.

We studied sequence variations in the regulatory region of the bovine growth hormone receptor gene. A polymerase chain reaction (PCR)-based method for detecting AluI, AccI, and StuI restriction fragment length polymorphisms (RFLPs) in the 5' flanking region of the bovine growth hormone receptor gene was developed and tested for association with milk-related traits in Holstein bulls. Allele frequencies of the polymorphisms in two groups of Holstein progeny-tested bulls born from 1950 to 1970 and in the 1980s, respectively, were estimated. The allele frequency of the AluI(-) allele was 0.63 and 0.42 in the bulls from 1950 to 1970 and in the 1980s, respectively. The frequency of the StuI(-) allele was 0.14 and 0.07 in the two respective bull groups. Allele frequency for AccI(-) allele was about 0.22 in both bull groups. The differences in allele frequencies for the AluI polymorphism in the two bull groups were significantly different (P < or = .005). The AluI(+/+) bulls had a higher estimated breeding value (EBV) for fat (P < or = .016) than AluI(-/-) bulls. The average effect of allele substitution for the AluI polymorphism was +/- 8 for fat EBV. The AluI polymorphism could be further evaluated for use in marker-assisted selection in dairy cattle.

Alleles↗

PubMedDate not supplied

Trait association of a genetic marker near the IGF-I gene in egg-laying chickens.

The insulin-like growth factor I (IGF-I) gene was screened for genetic variants associated with trait means and trait correlations. Analysis of an unselected randomly mated White Leghorn population revealed a PstI restriction fragment length polymorphism (RFLP) in the 5' region of the gene which segregated at a frequency of 0.83 for the PstI(+) allele (presence of a PstI restriction site). A comparison of the three genotypic classes revealed that the PstI(-/-) genotype was associated with a significantly lower egg weight measured in three different time periods, while the PstI(+/-) genotype was significantly associated with a higher eggshell weight estimated from the egg weight and egg specific gravity. For eggshell weight, the effect was age dependent and significant only for the last two periods of egg laying. No genotype associations were found for body weight, feed consumption, and egg laying rates. Significant dominance effects of the IGF-I genotype were observed for two of the egg weight measurements and three of the eggshell weight estimates. Partial correlation analyses in the two most frequent genotypic classes, PstI(+/+) and PstI(+/-), revealed the presence of a regulatory loop between feed consumption, body weight, egg weight, and the rate of egg laying. Several aspects of this regulatory loop were different between the two genotypic classes. In particular, for the PstI(+/+) genotype, feed consumption was positively associated with egg weight, while there was no significant association for the PstI(+/-) genotype. Further, the degree of association of body weight with egg weight decreased with age in the genotypic class PstI(+/-), while it was constant for the PstI(+/+) genotype. The results indicated that the marker in the IGF-I gene was not only associated with changes in some trait means, but also with changes in the stability of the coordination between feed intake, body weight, and egg production traits.

Animals↗