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Biomedical subjects

M M Martinez

Publications and source records attributed to M M Martinez.

10 recordsLinked to original sources

Running in the surf: hydrodynamics of the shore crab Grapsus tenuicrustatus.

When locomoting in water, animals experience hydrodynamic forces due to ambient water motion and their own motion through the water. Because an aquatic pedestrian must maintain contact with the substratum to locomote, hydrodynamic forces which can dislodge an animal have the capacity to constrain the postures, gaits and speeds an animal can use. This study measured hydrodynamic forces on the amphibious shore crab Grapsus tenuicrustatus in aquatic and terrestrial postures. The crabs' locomotory speeds and ambient water velocities in their habitat were considered in predicting the conditions under which a crab is likely to overturn or wash away. A non-moving crab can withstand 200% faster flow in the aquatic posture than in the terrestrial posture. A crab using the terrestrial posture while locomoting through still water experiences 132% greater drag and 17% greater acceleration reaction forces than it does in the aquatic posture. Due to the lower hydrodynamic forces in the aquatic posture, a crab could locomote up to 50% more quickly or through a faster water flow environment than it could in the terrestrial posture. In faster flow environments like wave-swept rocky shores, a crab in either posture would have to actively grasp the substratum to keep from being dislodged, preventing it from using a punting gait. In slower flow environments, animals can locomote faster and take advantage of different gaits that are not available to them in faster flow environments.

Animals↗

Genetic mapping of adrenergic receptor genes in humans.

We have genetically mapped the genes encoding four human adrenergic receptors (ARs) of subtypes alpha 1C, alpha 2A, alpha 2B, and beta 1, which are prototypic G protein coupled receptors that mediate the physiological effects of neurotransmitters, hormones, and drugs. We placed these genes onto the Cooperative Human Linkage Center (CHLC) and Genethon framework maps, within confidence intervals with greater than 1000:1 odds. With multipoint analysis the alpha 1C gene (locus ADRA1C) mapped to the interval between NEFL and D8S283; alpha 2-C4, the gene encoding the alpha 2C AR (locus ADRA2C), mapped to the interval between D4S126 and D4S62; and the alpha 2-C10 (alpha 2A AR)/beta 1 haplotype (loci ADRA2A/ADRB1) mapped to the interval between D10S259 and D10S187. A fifth AR gene, beta 2, yielded significant LOD scores with markers on the long arm of chromosome 5; however, this locus (ADRB2) could not be mapped to any specific interval with odds of greater than 1000:1. The two AR genes that are completely linked, alpha 2-C10 and beta 1, were oriented on their shared 225-kb genomic fragment relative to the direction of transcription, with beta 1 being 5' to alpha 2-C10. The positioning of these genes on high-density framework maps allows them to be tested as candidates in a spectrum of diseases that might involve AR dysfunction.

Base Sequence↗

Sampling strategies for linkage studies.

Broadly there are three alternative sampling strategies for linkage studies of complex disorders such as schizophrenia. These are to select either affected sib pairs (and their parents) or small-to-medium-size pedigrees, or large pedigrees. The advantages and disadvantages of each are discussed. Our studies show that, even in the presence of heterogeneity, linkage can be found in clinically realistic sample sizes of nuclear families or medium-sized pedigrees. However, relying on affected sib pair methods in less satisfactory.

Chromosome Mapping↗

Genetic and physical mapping of the human cannabinoid receptor gene to chromosome 6q14-q15.

A cDNA encoding a G protein-coupled receptor that appears to mediate the behavioral effects of cannabinoids, the psychoactive ingredients of marijuana, has recently been cloned from rat cerebral cortex and expressed. We have now determined the genomic location of the human cannabinoid receptor gene (CNR) by a combination of genetic linkage mapping and chromosomal in situ hybridization. The segregation pattern of a CNR DNA polymorphism was analyzed in 508 individuals from two or three generations of 40 families. Linkage of CNR to chromosome 6 centromeric loci and to DNA markers on the long and short arms was detected. CNR was tightly linked to D6S27, which is known to be located at 6q (log10 odds ratio [lod score, Zmax] of 10.54 at a recombination fraction [theta] of 0.02). Close linkage was suggested between CNR and CGA, the locus for the alpha subunit of human chorionic gonadotropin (Zmax = 2.71 at theta = 0). Moreover, CNR was linked to the two markers 308/BamHI (theta = 0.14) and 308/TaqI (theta = 0.20) defining locus D6Z1, an extended, highly repetitive, and highly conserved sequence localized exclusively to centromeres of all chromosomes and enriched on chromosome 6. In situ hybridization using a biotinylated cosmid probe localizes the gene to 6q14-q15, thereby confirming the linkage analysis and defining a precise alignment of the genetic and cytogenetic maps.

Cannabinoids↗

Manic depressive illness not linked to factor IX region in an independent series of pedigrees.

We studied seven informative kindreds segregating for manic depressive illness (MDI), consistent with X-chromosome transmission of the trait (families do not show affective disease in both a father and a son), using markers mapped to the region of Xq27-Xq28. The lod scores were consistently below -2 in the region extending from about 10 cM centromeric from the Factor IX locus (F9) to the colorblindness region. This study does not replicate previous reports of linkage of MDI to Factor IX (Xq27) and colorblindness region (Xq28) chromosomal markers in other kindreds.

Bipolar Disorder↗

The detection of linkage and heterogeneity in nuclear families for complex disorders: one versus two marker loci.

Using exact expected likelihoods, we have computed the average number of phase-unknown nuclear families needed to detect linkage and heterogeneity. We have examined the case of both dominant and recessive inheritance with reduced penetrance and phenocopies. Most of our calculations have been carried out under the assumption that 50% of families are linked to a marker locus. We have varied both the number of offspring per family and the sampling scheme. We have also investigated the increased power when the disease locus is midway between two marker loci 10 cM apart. For recessive inheritance, both linkage and heterogeneity can be detected in clinically feasible sample sizes. For dominant inheritance, linkage can be detected but heterogeneity cannot be detected unless larger sibships (four offspring) are sampled or two linked markers are available. As expected, if penetrance is reduced, sampling families with all sibs affected is most efficient. Our results provide a basis for estimating the amount of resources needed to find genes for complex disorders under conditions of heterogeneity.

Genes, Dominant↗