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M Carlson

Publications and source records attributed to M Carlson.

At least 199 records · Page 11Linked to original sources
PubMed1988

Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.

Familial adenomatous polyposis (FAP), a Mendelian disorder that includes familial polyposis coli (FPC) and Gardner syndrome (GS), has an autosomal dominant mode of inheritance. It is characterized by hundreds to thousands of adenomatous polyps that can progress to carcinoma of the colon, suggesting that the gene that harbors the FAP germ-line mutation may play an important role in the somatic genetic pathway to colon cancer. The defect responsible for FAP was recently mapped to the long arm of chromosome 5 by linkage between the FPC phenotype and a locus defined by DNA probe pC11p11 (D5S71), located at 5q21-22. Because an important next step in the paradigm for identification of a disease gene is to obtain a more precise localization, we isolated and mapped by linkage six additional polymorphic DNA markers in the FAP region. Subsequent linkage analysis in six pedigrees, three having the FPC phenotype and three segregating GS, placed the FAP locus very close to a new marker, YN5.48 (D5S81), that is approximately 17 centimorgans distal to C11p11 on the genetic map. The analysis revealed no evidence of genetic heterogeneity between the two phenotypes, a question that had not been clearly resolved by the earlier studies. The new set of markers in the near vicinity of the FAP locus represents a further step toward isolation of the genetic defect and provides the opportunity for preclinical diagnosis of risk status for colon cancer among individuals in families that are segregating adenomatous polyposis.

Adenomatous Polyposis Coli↗
PubMed1988

New approach for isolation of VNTR markers.

Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develop more VNTR markers, we synthesized nine different 18-base-long oligonucleotides whose sequences each included GNNGTGGG. When 102 cosmid clones selected by these oligonucleotides were tested for polymorphism, 34 (33%) of them showed multiallelic VNTR polymorphisms (average heterozygosity 68%). This procedure represents a new and efficient approach for isolating additional VNTR markers and supports the idea that the GNNGTGGG sequence may play an important role in the generation of the multiallelic systems within the human genome.

Blotting, Southern↗
PubMed1988

The importance of regressive changes in the development of the nervous system: towards a neurobiological theory of child development.

In this paper we propose that theories of early personality development be revised to consider knowledge of neurodevelopment. Research findings are reviewed that have established the presence of regressive changes in the normal development of the brain. These regressive changes, consisting of neuronal death and process and synapse elimination, are theoretically linked to three precursors of personality: sex differences, temperamental traits and perceptual-motor coordination. Evidence supporting these hypotheses is provided from studies examining how the effects of genetic, environmental, and experiential factors on brain development may determine the development of these personality features.

Animals↗
PubMed1988

Recovery of tactile function after damage to primary or secondary somatic sensory cortex in infant Macaca mulatta.

These studies were designed to determine the basis for recovery of tactile function after the removal of primary (SI) or secondary (SII) cortex in infant Macaca mulatta. From previous studies we know that although removal of SI or SII in the adult macaque produces severe and irreversible impairment on a variety of tactile tasks, normal function can be obtained after partial or total SI lesions in the infant. From the present studies we have found that, as with SI, neither unilateral nor bilateral removals of SII in infants significantly affected the acquisition of or the performance on size tasks, but did cause a temporary delay in acquisition of texture tasks. Performance on texture threshold tasks was normal. The removal of the remaining SI in a juvenile animal that had received a unilateral SI lesion in infancy did not disrupt the recovered function, indicating that recovery is not mediated by the intact SI. However, when SI and SII were removed together from the same hemisphere in an infant, either sequentially or simultaneously, major impairment in the acquisition of texture tasks followed. These results suggest that although SI and SII are necessary for normal tactile function in the adult macaque, they show an equipotentiality for mediating normal tactile function after damage to either area in infants.

Animals↗
PubMed1988

OSMA's AIDS task force.

Explore the source record for details and available documents.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Mutations causing constitutive invertase synthesis in yeast: genetic interactions with snf mutations.

We have selected 210 mutants able to grow on sucrose in the presence of 2-deoxyglucose. We identified recessive mutations in three major complementation groups that cause constitutive (glucose-insensitive) secreted invertase synthesis. Two groups comprise alleles of the previously identified HXK2 and REG1 genes, and the third group was designated cid1 (constitutive invertase derepression). The effect of cid1 on SUC2 expression is mediated by the SUC2 upstream regulatory region, as judged by the constitutive expression of a SUC2-LEU2-lacZ fusion in which the LEU2 promoter is under control of SUC2 upstream sequences. A cid1 mutation also causes glucose-insensitive expression of maltase. The previously isolated constitutive mutation ssn6 is epistatic to cid1, reg1 and hxk2 for very high level constitutive invertase expression. Mutations in SNF genes that prevent derepression of invertase are epistatic to cid1, reg1 and hxk2; we have previously shown that ssn6 has different epistasis relationships with snf mutations. The constitutive mutation tup1 was found to resemble ssn6 in its genetic interactions with snf mutations. These findings suggest that CID1, REG1 and HXK2 are functionally distinct from SSN6 and TUP1.

Genes↗
PubMed1987

The SNF3 gene is required for high-affinity glucose transport in Saccharomyces cerevisiae.

Glucose uptake mutants have not been previously obtained in Saccharomyces cerevisiae, possibly because there seem to be at least two transport systems, of low and high affinities. We showed that snf3 (sucrose nonfermenting) mutants did not express high-affinity glucose uptake. Furthermore, their growth was completely impaired on low concentrations of glucose in the presence of antimycin A (which blocks respiration). Several genes which complemented the original snf3 gene were obtained on multicopy plasmids. Some of them, as well as plasmid-carried SNF3 itself, conferred a substantial increase in high-affinity glucose uptake in both snf3 and wild-type hosts. The effects of glucose on the expression of such a plasmid-determined high-affinity uptake resembled those in the wild type. Other genes complementing snf3 seemed to cause an increase in low-affinity glucose uptake. We suggest that SNF3 may function specifically in high-affinity glucose uptake, which is needed under some conditions of growth on low glucose concentrations. SNF3 itself or the other complementing genes may specify components of the glucose uptake system.

Biological Transport↗
PubMed1987

Molecular analysis of SSN6, a gene functionally related to the SNF1 protein kinase of Saccharomyces cerevisiae.

Mutations in the SSN6 gene suppress the invertase derepression defect caused by a lesion in the SNF1 protein kinase gene. We cloned the SSN6 gene of Saccharomyces cerevisiae and identified its 3.3-kilobase poly(A)-containing RNA. Disruption of the gene caused phenotypes similar to, but more severe than, those caused by missense mutations: high-level constitutivity for invertase, clumpiness, temperature-sensitive growth, alpha-specific mating defects, and failure to homozygous diploids to sporulate. In contrast, the presence of multiple copies of SSN6 interfered with derepression of invertase. An ssn6 mutation was also shown to cause glucose-insensitive expression of a GAL10-lacZ fusion and maltase. The mating defects of MAT alpha ssn6 strains were associated with production of two a-specific products, a-factor and barrier, and reduced levels of alpha-factor; no deficiency of MAT alpha 2 RNA was detected. We showed that ssn6 partially restored invertase expression in a cyr1-2 mutant, although ssn6 was clearly not epistatic to cyr1-2. We also determined the nucleotide sequence of SSN6, which is predicted to encode a 107-kilodalton protein with stretches of polyglutamine and poly(glutamine-alanine). Possible functions of the SSN6 product are discussed.

Amino Acid Sequence↗
PubMed1987

SSN20 is an essential gene with mutant alleles that suppress defects in SUC2 transcription in Saccharomyces cerevisiae.

Dominant and recessive mutations at the SSN20 locus were previously isolated as extragenic suppressors of mutations in three genes (SNF2, SNF5, and SNF6) that are required in trans to derepress invertase expression. All ssn20 alleles cause recessive, temperature-sensitive lethality. In this study we cloned the SSN20 gene, identified a 4.6-kilobase poly(A)-containing RNA, and showed that disruption of the gene is lethal in a haploid cell. Genetic mapping of SSN20 to a locus on chromosome VII 10 centimorgans distal to cly8 led to the finding that SSN20 is the same gene as SPT6, which affects expression of delta insertions in the 5' noncoding region of HIS4 (F. Winston, D. T. Chaleff, B. Valent, and G. R. Fink, Genetics 107:179-197, 1984). We also showed that an ssn20 mutation restored expression of secreted invertase from deletions of the SUC2 upstream regulatory region; ssn20 restored derepression of SUC2 mRNA in strains with a SUC2 upstream region deletion or a snf2 mutation. Increased or decreased gene dosage of SSN20 also suppressed defects that are suppressed by ssn20 missense mutations. These findings suggest that SSN20 plays a role in general transcriptional processes.

Chromosome Mapping↗
PubMed1986

A yeast gene that is essential for release from glucose repression encodes a protein kinase.

The SNF1 gene plays a central role in carbon catabolite repression in the yeast Saccharomyces cerevisiae, namely that SNF1 function is required for expression of glucose-repressible genes. The nucleotide sequence of the cloned SNF1 gene was determined, and the predicted amino acid sequence shows that SNF1 encodes a 72,040-dalton polypeptide that has significant homology to the conserved catalytic domain of mammalian protein kinases. Specific antisera were prepared and used to identify the SNF1 protein. The protein was shown to transfer phosphate from adenosine triphosphate to serine and threonine residues in an in vitro autophosphorylation reaction. These findings indicate that SNF1 encodes a protein kinase and suggest that protein phosphorylation plays a critical role in regulation by carbon catabolite repression in eukaryotic cells.

Amino Acid Sequence↗
PubMed1986

Second somatic sensory cortical area (SII) in a prosimian primate, Galago crassicaudatus.

The cortex adjacent to and along the upper bank of the lateral sulcus (UB-LS) of a prosimian primate, Galago crassicaudatus, was explored to determine the topographical representation of low-threshold cutaneous inputs to this region. The somatic sensory projections to this cortex were considered homologous to those defined in other species as the second somatosensory cortical area (SII). Multiple and single neuron recordings were obtained with tungsten microelectrodes in animals anesthetized with sodium pentobarbital or ketamine hydrochloride; receptive fields were determined by means of manually applied tactile stimuli. The area of SII was located approximately 1-1.5 mm rostral to the posterior limit of LS, extended rostrally approximately 4 mm, and occupied nearly all of the upper bank of the sulcus throughout this region. Receptive fields (RFs) in SII were primarily contralateral except for some bilateral input in the cortex representing portions of the trunk, head, and face. The boundaries of RFs were well defined, especially where recordings were located in the middle layers of the cortex. The distribution of RFs across SII was somatotopically organized into a single, relatively erect representation of the body that involved inputs from the face rostral and medial (superficially along the UB-LS) surrounding an enlarged forelimb area; the latter, in turn, lies rostral and medial to the hindlimb zone. Projections from the tail and sacrum are located furthest caudal and lateral (deeper along UB-LS). Separate regions that were devoted to the glabrous skin surfaces of the distal limbs formed the rostral and lateral boundaries of the distal fore- and hindlimb representations, respectively. In the zone for the glabrous surfaces of the forelimb digits, individual digits dominated discrete components of the SII map, especially medially where digit 1 was represented. The glabrous tip of digit 5 was represented caudal and lateral to the tip of digit 1. A similar radial to ulnar medial to lateral sequence was noted in the area representing the palm. Except for a possible medially located toe 1 zone in the hindlimb representation, separated representations for the glabrous skin of individual toes were not noted. The dorsal hairy surfaces of the digits and toes were, respectively, amalgamated within the representations for the dorsal surfaces of the hand and foot. In these regions, which were found superficial and slightly caudal to their respective glabrous zones, some RFs were found that were devoted only to the distal extremities, but most RFs included more proximal portions of the hand or foot dorsum.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1986

Studies on the evolution of multiple somatosensory representations in primates: the organization of anterior parietal cortex in the New World Callitrichid, Saguinus.

Because members of the New World family, Callithricidae, are generally regarded as the most primitive of monkeys, we studied the organization of somatosensory cortex in the tamarin (Saguinus) in hopes of better understanding differences in the organization of anterior parietal cortex in primates and how these differences relate to phylogeny. In most prosimian primates only one complete representation of cutaneous receptors has been found in the region of primary cortex, S-I, while in all Old and New World monkeys studied to date, two cutaneous representations exist in distinct architectonic fields, areas 3b and 1. In detailed microelectrode mapping studies in anesthetized tamarins, only one complete representation responsive to low-threshold cutaneous stimulation was evident in the S-I region. This topographic representation was in a parietal koniocortical field that architectonically resembles area 3b of other monkeys, and the general somatotopic organization of the field was similar to that of area 3b of other monkeys. Cortex rostral to the single representation was generally unresponsive to somatosensory stimuli, or required more intense stimulation for neural activation. Cortex caudal to the representation, in the region of area 1 of other monkeys, was generally either unresponsive or responded to only high-threshold stimulation, although some recording sites were activated by low-threshold tactile stimulation. The present evidence, together with that from previous studies, suggests that the single, complete body surface representation in Saguinus is homologous to the S-I representation found in some prosimians (Galago, Perodicticus) and the area 3b cutaneous representation found in New World Cebidae (Aotus, Saimiri, and Cebus) and Old World Macaca. Cortex rostral to S-I in Saguinus has the appearance of areas 3a and 4 of other primates. The cortex caudal to S-I in Saguinus, while resembling area 1 in some ways, does not have all of the features of area 1 of other monkeys. In particular, the field was not easily activated by low-threshold cutaneous stimuli, as area 1 is in other monkeys, and therefore a second cutaneous representation of all body parts was not demonstrated. Thus, cortex in the expected location of area 1 of Saguinus was not as responsive as area 1 of other monkeys, and it somewhat resembled the high-threshold fringe zones found caudal to S-I in anesthetized prosimians and some nonprimates. The results raise the possibility that the area 1 cutaneous representation that is characteristic of other New World monkeys and Old World monkeys evolved from a less responsive precursor along the caudal border of S-I in early monkeys.

Animals↗