A minisatellite from bovine which produces highly polymorphic DNA fingerprint patterns in mammals and chickens.
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Animals↗
Biomedical subjects
J S Beckmann
Publications and source records attributed to J S Beckmann.
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.
Cell Line, Transformed↗
Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats.
The spontaneously hypertensive rat and the stroke-prone spontaneously hypertensive rat are useful models for human hypertension. In these strains hypertension is a polygenic trait, in which both autosomal and sex-linked genes can influence blood pressure. Linkage studies in crosses between the stroke-prone spontaneously hypertensive rat and the normotensive control strain Wistar-Kyoto have led to the localization of two genes, BP/SP-1 and BP/SP-2, that contribute significantly to blood pressure variation in the F2 population. BP/SP-1 and BP/SP-2 were assigned to rat chromosomes 10 and X, respectively. Comparison of the human and rat genetic maps indicates that BP/SP-1 could reside on human chromosome 17q in a region that also contains the angiotensin I-converting enzyme gene (ACE). This encodes a key enzyme of the renin-angiotensin system, and is therefore a candidate gene in primary hypertension. A rat microsatellite marker of ACE was mapped to rat chromosome 10 within the region containing BP/SP-1.
Animals↗
Splice junctions follow a 205-base ladder.
Of all aspects of mRNA maturation the accuracy of intervening sequence excision and exon ligation is, perhaps, the most enigmatic. Attempts to identify the essential elements involved in this process have thus far not yielded any satisfactory answer as to what structural (sequence) features are prerequisite for the vital precision of this process. In our search for underlying structural orders we asked whether exons and introns had any positional preferences within a gene. This analysis led to the unexpected discovery that the DNA length is synchronized between successive 3' splicing sites as well as between successive 5' splicing sites, with a frame of approximately 205 base pairs. This observation reveals additional organization of genes in eukaryotes and, perhaps, links gene splicing with chromatin structure.
Animals↗
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold-induced paralysis. Electrophysiological studies have demonstrated variant-specific abnormalities in skeletal muscle membrane sodium conductance. We tested the hypothesis that hyperkalemic periodic paralysis (without myotonia) and paramyotonia congenita are tightly linked to the tetrodotoxin-sensitive adult skeletal muscle sodium channel gene on chromosome 17q23-25 in two large pedigrees. The DNA polymorphisms detected in the growth hormone skeletal muscle sodium channel complex (GH1-SCN4A) and by flanking polymorphic markers (D17S74 and D17S40) demonstrated no recombinants between the disease phenotypes and this complex. Phenotypic variation in the hereditary hyperkalemic periodic paralyses may result from allelic heterogeneity at the tetrodotoxin-sensitive adult skeletal muscle sodium channel locus.
Adult↗
Distribution of endogenous viruses in some commercial chicken layer populations.
The distribution of endogenous virus (ev) genes was studied in five commercial layer lines; four were brown-egg types and one was White Leghorn. The DNA samples were obtained from nine birds of each line and digested with SacI and BamHI endonucleases. The DNA fragments were separated by gel electrophoresis, and Southern blots were prepared and examined for the presence of ev genes following hybridization with the labeled recombinant plasmid pRAV-2 and autoradiography. Almost all fragments were present in more than one line, suggesting that each line has drawn a random assortment of ev genes from the same common pool, possibly as a founder effect. A great degree of polymorphism is shown by the ev genes in the lines investigated. Most fragments were present at low or intermediate frequencies. Very few fragments were present in only one line or in only one bird. This suggests that de novo integration of ev genes at new sites is a relatively rare event. Very few fragments were present at high frequencies, and none of the fragments, except for the BamHI internal fragments, were present in all birds of all lines. Considering that ev genes are present in the wild progenitor of the domestic chicken, the lack of fixation of any ev genes in the chicken genome is remarkable. It is proposed that ev genes have general deleterious effects in the chicken (hence, the lack of fixation), but those ev genes that have been retained in the chicken genome have favorable effects under some circumstances with consequent equilibrium at low to intermediate frequencies. It is speculated that the retained ev genes may represent sites of favorable mutation via insertional mutagenesis and, hence, a potential route to the cloning of genes of economic importance in poultry.
Analysis of Variance↗
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.
Limb-girdle muscular dystrophy (LGMD) is inherited as a monogenic, autosomal recessive trait. A genetically homogeneous group of families from the Isle of La Réunion, comprising individuals at high risk for this disorder, was systematically analysed using a panel of 85 polymorphic markers spanning approximately 30% of the human genome. Linkage was detected between the LGMD gene and the marker D15S25, uncovered with the probe pTHH114 and restriction enzyme RsaI (lod score = 5.52 at a 0 = 0.0), localising this gene onto chromosome 15. Such a lod score corresponds to odds of 3.3 x 105 in favor of linkage versus absence of linkage. Additional families from other populations will need to be examined before the role of this newly identified locus can be understood.
Chromosome Mapping↗
Genetic and physical mapping of the human genome.
In the table shown in the Briefing "Who leads the (Ivy) League in " 'citation impact'? " (9 Mar., p. 1183), the figures shown in the columns for "Citations" and "Citation impact" for Cornell University were incorrect. They should have been "523,878" and "16.53," respectively. The ranking was correct."
Base Sequence↗
Large restriction fragments containing poly-TG are highly polymorphic in a variety of vertebrates.
Southern blots of genomic DNA from a variety of species digested by restriction endonucleases having a four-bp specificity, were probed with a bovine genomic clone consisting of seven tandem poly-TG stretches separated by a 29bp linker sequence. Highly variable DNA 'fingerprint' patterns were obtained in chicken, sheep, and horse, moderately variable DNA 'fingerprints' in mouse and man, and a monomorphic pattern in Drosophila. In chicken, horse and man a (TG)10 synthetic oligonucleotide probe gave results identical to those given by the bovine probe. Furthermore, in chicken the DNA fingerprint variation showed typical Mendelian inheritance and differed from the fingerprints obtained with Jeffreys 33.6 and M13 minisatellite probes. Thus, for a variety of vertebrate species, poly-TG-containing probes can uncover useful genetic variation.
Animals↗
(TG)n uncovers a sex-specific hybridization pattern in cattle.
Screening of a bovine genomic library with the human minisatellite 33.6 probe uncovered a family of clones that, when used to probe Southern blots of bovine genomic DNA digested with the restriction enzyme HaeIII or MboI, revealed sexually dimorphic, but otherwise virtually monomorphic, patterns among the larger DNA fragments to which they hybridized. Characterization of one of these clones revealed that it contains different minisatellite sequences. The sexual dimorphism hybridization pattern observed with this clone was found to be due to multiple copies of two tandemly interspersed repeats: the simple sequence (TG)n and a previously undescribed 29-bp sequence. Both repeats appear to share many genomic loci including autosomal loci. In contrast, Southern analysis of AluI- or HinfI-digested bovine DNA with the (TG)n repeat used as a probe yielded substantial polymorphism. These results show that (i) different minisatellites can be found in a cluster, (ii) both simple and more complex repeated sequences other than the simple quaternary (GATA)n repeat can be sexually dimorphic, and (iii) simple repeats can reveal substantial polymorphism.
Animals↗
Toward a unified approach to genetic mapping of eukaryotes based on sequence tagged microsatellite sites.
The genomes of all eukaryotes appear to contain a special class of loci, termed microsatellites, which can serve, if sequenced and taken as the substrate for the polymerase chain reaction, as highly informative, locus-specific markers. By analogy to the "sequence tagged sites" recently proposed by Olsen et al. for standardizing the human physical gene map, these microsatellite markers are termed "sequence tagged microsatellite sites" (STMS). Genetic maps based on STMS will share with the Olsen physical maps the advantage that mapping vocabularies will be standardized to the DNA sequence base and that access to any particular locus will not require shipping or storing cloned probes. The species map will consist simply of a listing of nucleotide sequences. Reference populations for developing STMS maps can be chosen on the basis of biological or economic interest. It will not be necessary to maximize for genetic divergence.
Animals↗
Parentage identification in the bovine using "deoxyribonucleic acid fingerprints".
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Animals↗
The bovine gene map.
The present status of the bovine gene map as well as some of the methods and strategies important for future efforts in completing the gene map of cattle are reviewed.
Animals↗
Phylogenetic distribution in the genus Mus of t-complex-specific DNA and protein markers: inferences on the origin of t-haplotypes.
We have examined the phylogenetic distribution of two t-specific markers among representatives of various taxa belonging to the genus Mus. The centromeric TCP-1a marker (a testicular protein variant specific for all t-haplotypes so far studied) has also been apparently detected in several non-t representatives of the Mus IVA, Mus IVB, and probably M. cervicolor species. By contrast, a t-specific restriction-fragment-length polymorphism allele (RFLP) of the telomeric alpha-globin pseudogene DNA marker alpha-psi-4 was found only in animals belonging to the M. musculus-complex species either bearing genuine t-haplotypes or, like the M. m. bactrianus specimen studied here, likely to do so. This t-specific alpha-psi-4 RFLP allele was found to be as divergent from the RFLP alleles of the latter, non-t, taxonomical groups as it is from Mus 4A, Mus 4B, or M. spretus ones. These results suggest the presence of t-haplotypes and of t-specific markers in populations other than those belonging to the M. m. domesticus and M. m. musculus subspecies, implying a possible origin for t-haplotypes prior to the radiation of the most recent offshoot of the Mus genus (i.e., the spretus/domesticus divergence), some 1-3 Myr ago.
Animals↗
Mapping of bovine prolactin and rhodopsin genes in hybrid somatic cells.
The genes encoding bovine prolactin and rhodopsin were assigned to syntenic groups on the basis of hybridization of DNA from a panel of bovine-hamster hybrid somatic cell lines with cloned prolactin and rhodopsin gene probes. Prolactin was found to be syntenic with previously mapped glyoxalase, BoLA and 21-hydroxylase genes, establishing a syntenic conservation with human chromosome 6. The presence of bovine rhodopsin sequences among the various hybrid cell lines was not concordant with any gene previously assigned to one of the 23 defined autosomal syntenic groups. Thus, rhodopsin marks a new bovine syntenic group, U24, leaving only five cattle autosomes unmarked by at least one biochemical or molecular marker.
Animals↗
Screening of Israeli Holstein-Friesian cattle for restriction fragment length polymorphisms using homologous and heterologous deoxyribonucleic acid probes.
Genomic DNA of Israeli Holstein-Friesian dairy cattle were screened with a battery of 17 cloned or subcloned DNA probes in an attempt to document restriction fragment length polymorphisms at a number of genetic loci. Restriction fragment length polymorphisms were observed at the chymosin, oxytocin-neurophysin I, lutropin beta, keratin III, keratin VI, keratin VII, prolactin, and dihydrofolate reductase loci. Use of certain genomic DNA fragments as probes produced hybridization patterns indicative of satellite DNA at the respective loci. Means for distinguishing hybridizations to coding sequences for unique genes from those to satellite DNA were developed. Results of this study are discussed in terms of strategy for the systematic development of large numbers of bovine genomic polymorphisms.
Animals↗
Restriction fragment length polymorphisms in dairy and beef cattle at the growth hormone and prolactin loci.
Two bovine populations, a Holstein-Friesian dairy stock and a synthetic (Baladi X Hereford X Simmental X Charolais) beef stock, were screened for restriction fragment length polymorphisms (RFLPs) at the growth hormone and prolactin genes. Most RFLPs at the growth hormone gene are apparently the consequence of an insertion/deletion event which was localized to a region downstream of the structural gene. The restriction map for the genomic region including the growth hormone gene was extended. Two HindIII RFLPs at the growth hormone locus, as well as several RFLPs at the prolactin gene, seemed to be the consequence of a series of point mutations. The results are discussed in terms of the possibility that minor genomic variability underlies quantitative genetic variation.
Animals↗
Intervening sequences exhibit distinct vocabulary.
Little is known about the origin and function of eukaryotic introns. Application of a novel linguistic approach to the analysis of intervening sequences reveals, however, that they exhibit a specific non-random vocabulary whose major feature is the utilization of mirror-symmetrical words ("mirrorrim"). Introns also manifest a significant tendency to avoid local complementarities. Possible biological implications of the corresponding loop regions in the RNA transcripts are discussed.
Animals↗