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1.
The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability 总被引:1,自引:0,他引:1
Hair length in dogs has been known for many years to be primarily controlled by a limited number of genes, but none of the genes have been identified. One of these genes produces a recessively inherited long-haired phenotype that has been thought to explain the bulk of hair-length variation among many breeds. Sequence analysis of the FGF5 gene in short and long-haired corgis resulted in the identification of two coding region differences: a duplication in a relatively non-conserved region of the gene and a missense mutation, resulting in the substitution of Phe for Cys, in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair, eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds. 相似文献
2.
We have used a genetic structural variation of apolipoprotein A-I in mice to examine the origin of the multiple charge isoforms of the plasma protein. Apolipoprotein A-I translated in vitro from hepatic or enteric mRNA revealed that the genetic variation simultaneously alters the charge of the protein produced by both tissues. The variation also shifted the charge of the entire family of isoforms found in plasma or translated in vitro. These results indicate that the protein produced by different tissues as well as the multiple isoforms are all derived from a common structural gene by processing. 相似文献
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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 总被引:26,自引:0,他引:26
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Bork JM Peters LM Riazuddin S Bernstein SL Ahmed ZM Ness SL Polomeno R Ramesh A Schloss M Srisailpathy CR Wayne S Bellman S Desmukh D Ahmed Z Khan SN Kaloustian VM Li XC Lalwani A Riazuddin S Bitner-Glindzicz M Nance WE Liu XZ Wistow G Smith RJ Griffith AJ Wilcox ER Friedman TB Morell RJ 《American journal of human genetics》2001,68(1):26-37
5.
Antipeptide antibodies differentiate between long and short isoforms of the D2 dopamine receptor. 总被引:1,自引:0,他引:1
C David M Ewert P H Seeburg S Fuchs 《Biochemical and biophysical research communications》1991,179(2):824-829
We have developed specific antibodies directed against two synthetic peptides corresponding to defined sequences in the D2 dopamine receptor. One peptide is from a region that is present only in the 'long' isoform of the receptor, whereas the other is from a region that is common to both. These antibodies are able to recognize the native receptor as judged by immunocytochemical staining of cells transfected with dopamine receptor DNA. One antibody was shown to be specific for the 'long' form of the receptor and reacts only with cells transfected with the 'long' DNA subtype and not with those transfected with the 'short' DNA subtype. This recognition is specific and can be inhibited by the corresponding free peptide and not by a non-relevant peptide. 相似文献
6.
Rouleau A Héron A Cochois V Pillot C Schwartz JC Arrang JM 《Journal of neurochemistry》2004,90(6):1331-1338
The existence of mouse H3-receptor isoforms was investigated by PCR analysis and cDNA cloning. Splicing mechanisms previously reported in various species are conserved in the mouse. The retention/deletion of a fragment in the third intracellular loop of the mouse receptor leads to the existence of three isoforms designated mH(3(445)), mH(3(413)) and mH(3(397)) according to the length of their deduced amino acid sequence. PCR analysis showed that mouse H3-receptor isoforms display different expression patterns in the brain. Following expression in Cos-1 cells, [125I]iodoproxyfan binding indicated similar pharmacological profiles of the mH(3(445)), mH(3(413)) and mH(3(397)) isoforms. The pharmacological profile of the mouse H3 receptor is more similar to the rat receptor than to the human receptor, although some differences were also observed between the mouse and rat receptors. For example, the potency of thioperamide and ciproxifan is slightly higher at the mouse receptor than at the rat receptor but 40-100-fold higher than at the human receptor. In situ hybridization histochemistry showed that the distribution of H3-receptor mRNAs in the mouse brain is rather similar to that previously reported in the rat brain. However, the autoradiographic and cellular expression patterns observed in several brain areas such as the thalamus or hippocampus reveal important differences between the two species. 相似文献
7.
The pumilio (pum) gene plays an essential role in embryonic patterning and germline stem cell (GSC) maintenance during oogenesis in Drosophila. Here we report on a phenotypic analysis using pum(ovarette) mutations, which reveals multiple functions of pum in primordial germ cell proliferation, larval ovary formation, GSC division, and subsequent oogenic processes, as well as in oviposition. Specifically, by inducing pum(-) GSC clones at the onset of oogenesis, we show that pum is directly involved in GSC division, a function that is distinct from its requirement in primordial germ cells. Furthermore, we show that pum encodes 156- and 130-kD proteins, both of which are functional isoforms. Among pum(ovarette) mutations, pum(1688) specifically eliminates the 156-kD isoform but not the 130-kD isoform, while pum(2003) and pum(4277) specifically affect the 130-kD isoform but not the 156-kD isoform. Normal doses of both isoforms are required for the zygotic function of pum, yet either isoform alone at a normal dose is sufficient for the maternal effect function of pum. A pum cDNA transgene that contains the known open reading frame encodes only the 156-kD isoform and rescues the phenotype of both pum(1688) and pum(2003) mutants. These observations suggest that the 156- and 130-kD isoforms can compensate for each other's function in a dosage-dependent manner. Finally, we present molecular evidence suggesting that the two PUM isoforms share some of their primary structures. 相似文献
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Properties of the human long and short isoforms of the uncoupling protein-3 expressed in yeast cells
Two splice variants of the human uncoupling protein-3 (UCP3L and UCP3S) are highly expressed in skeletal muscle. The properties of UCP3L and S have been compared to those of UCP1 in a heterologous yeast expression system under the control of the galactose promoter. Both UCP3 isoforms were found to strongly impair the coupling efficiency of respiring cells thus resulting in increased thermogenesis. The uncoupling properties of both UCP3L and S could be clearly demonstrated also in isolated yeast mitochondria both in terms of coupled respiration and in the capacity to polarize the inner membrane in conditions of limited substrate availability. Contrary to what was observed with mitochondria containing UCP1, millimolar GDP and ATP had little if any effect on the uncoupling activity of UCP3. A very marked uncoupling of whole cells and isolated mitochondria was observed at very low expression levels of UCP3S indicating that the short isoform is more active than the long one. 相似文献
10.
Concatenated SSU (18S) and partial LSU (28S) sequences (2 kb) from 12 ingroup taxa, comprising 2 phoronids, 2 members of each of the craniid, discinid, and lingulid inarticulate brachiopod lineages, and 4 rhynchonellate, articulate brachiopods (2 rhynchonellides, 1 terebratulide and 1 terebratellide) were aligned with homologous sequences from 6 protostome, deuterostome and sponge outgroups (3964 sites). Regions of potentially ambiguous alignment were removed, and the resulting data (3275 sites, of which 377 were parsimony-informative and 635 variable) were analysed by parsimony, and by maximum and Bayesian likelihood using objectively selected models. There was no base composition heterogeneity. Relative rate tests led to the exclusion (from most analyses) of the more distant outgroups, with retention of the closer pectinid and polyplacophoran (chiton). Parsimony and likelihood bootstrap and Bayesian clade support values were generally high, but only likelihood analyses recovered all brachiopod indicator clades designated a priori. All analyses confirmed the monophyly of (brachiopods+phoronids) and identified phoronids as the sister-group of the three inarticulate brachiopod lineages. Consequently, a revised Linnean classification is proposed in which the subphylum Linguliformea comprises three classes: Lingulata, ‘Phoronata’ (the phoronids), and ‘Craniata’ (the current subphylum Craniiformea). Divergence times of all nodes were estimated by regression from node depths in non-parametrically rate-smoothed and other chronograms, calibrated against palaeontological data, with probable errors not less than 50 My. Only three predicted brachiopod divergence times disagree with palaeontological ages by more than the probable error, and a reasonable explanation exists for at least two. Pruning long-branched ingroups made scant difference to predicted divergence time estimates. The palaeontological age calibration and the existence of Lower Cambrian fossils of both main brachiopod clades together indicate that initial genetic divergence between brachiopod and molluscan (chiton) lineages occurred well before the Lower Cambrian, suggesting that much divergence between metazoan phyla took place in the Proterozoic.
See also Electronic Supplement at: http://www.senckenberg.de/odes/05-11.htm 相似文献
11.
The well-established view of the evolution of sex chromosome dimorphism is of a gradual genetic and morphological degeneration of the hemizygous chromosome. Yet, no large-scale comparative analysis exists to support this view. Here, we analysed karyotypes of 200 bird species to test whether the supposed directional changes occur in bird sex chromosomes. We found no support for the view that W chromosomes gradually become smaller over evolutionary time. On the contrary, the length of the W chromosome can fluctuate over short time scales, probably involving both shortening and elongation of non-coding regions. Recent discoveries of near-identical palindromes and neo-sex chromosomes in birds may also contribute to the observed variation. Further studies are now needed to investigate how chromosome morphology relates to its gene content, and whether the changes in size were driven by selection. 相似文献
12.
Berry A Scott HS Kudoh J Talior I Korostishevsky M Wattenhofer M Guipponi M Barras C Rossier C Shibuya K Wang J Kawasaki K Asakawa S Minoshima S Shimizu N Antonarakis S Bonné-Tamir B 《Genomics》2000,68(1):22-29
An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. 相似文献
13.
Motion: the long and short of it 总被引:6,自引:0,他引:6
Several authors have proposed that motion is analyzed by two separate processes: short-range and long-range. We claim that the differences between short-range and long-range motion phenomena are a direct consequence of the stimuli used in the two paradigms and are not evidence for the existence of two qualitatively different motion processes. We propose that a single style of motion analysis, similar to the well known Reichardt and Marr-Ullman motion detectors, underlies all motion phenomena. Although there are different detectors of this type specialized for different visual attributes (namely first-order and second-order stimuli), they all share the same mode of operation. We review the studies of second-order motion stimuli to show that they share the basic phenomena observed for first-order stimuli. The similarity across stimulus types suggests, not parallel streams of motion extraction, one short-range and passive and the other long-range and intelligent, but a concatenation of a common mode of initial motion extraction followed by a general inference process. 相似文献
14.
Stereocilia: the long and the short of it 总被引:2,自引:0,他引:2
Belyantseva IA Labay V Boger ET Griffith AJ Friedman TB 《Trends in molecular medicine》2003,9(11):458-461
Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell stereocilia in whirler mice and recessive deafness (DFNB31) in humans. Through its PDZ domains, whirlin might organize a group of proteins into a functional complex required for stereocilia elongation. Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing. 相似文献
15.
Thompson MV 《Trends in plant science》2006,11(1):26-32
The structure of phloem sieve-element-companion-cell complexes reflects a duality of function: to conduct photoassimilates throughout the plant, and to exchange solutes between the phloem and surrounding tissues. The conceptual integration of these long- and short-distance functions requires the abandonment of a long-cherished concept in phloem physicochemistry, that source-sink turgor differentials control flow. The manifest inability of decentralized organisms such as plants to control phloem translocation centrally disqualifies such differentials as control variables; besides, the phloem is maximally efficient if the pressure differentials are small. Testing this hypothesis and whether turgor differentials are small will require a significant recommitment to studying the quantitative anatomy of phloem. 相似文献
16.
Identification and cloning of the genetic determinant that encodes for the K88ac adherence antigen. 总被引:10,自引:2,他引:8
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Strains of Escherichia coli capable of causing diarrhea in young pigs are often able to proliferate in the upper small intestine of the infected animal due to the presence of a specific surface antigen, K88. The genetic determinants for K88 antigen production and the ability to utilize the trisaccharide raffinose (Raf) are carried on a 50-megadalton plasmid. Recombinant deoxyribonucleic acid techniques were used to insert an 8.2-megadalton HindIII fragment carrying the K88ac gene(s) from the K88/Raf plasmid pPS100 into the vector pBR322. At lease six polypeptides encoded by this fragment were expressed in minicells. These polypeptides ranged in size from 18,000 to 70,000 daltons. The K88ac antigenic subunit, which has an apparent molecular weight of 23,500, was identified by immunoprecipitation with staphylococcal protein A as the coprecipitant. 相似文献
17.
Olfactory memory: the long and short of it 总被引:2,自引:2,他引:0
It has been proposed that memory for odors does not have a short-term (or
working) memory system. The distinction between short- and long- term
memory in other sensory modalities has been generally supported by three
main lines of evidence: capacity differences between the proposed systems,
evidence of differential coding, and differential memory losses in
neuropsychological patients. The present paper examines these issues in an
effort to establish a similar distinction for the memory of olfactory
stimuli. Each of these lines of evidence is examined in relation to the
literature on olfactory memory. Based on this examination, it seems that
there is at least preliminary support from each of these lines of evidence
to advocate a distinction between a long- and short-term memory for
olfactory stimuli. Emphasis is placed upon the qualitative similarity of
olfactory memory to other memory systems. This similarity is further
highlighted through an examination of the literature pertinent to serial
position effects in memory for olfactory stimuli.
相似文献
18.
Holbrook SR 《Current opinion in structural biology》2005,15(3):302-308
The database of RNA structure has grown tremendously since the crystal structure analyses of ribosomal subunits in 2000-2001. During the past year, the trend toward determining the structure of large, complex biological RNAs has accelerated, with the analysis of three intact group I introns, A- and B-type ribonuclease P RNAs, a riboswitch-substrate complex and other structures. The growing database of RNA structures, coupled with efforts directed at the standardization of nomenclature and classification of motifs, has resulted in the identification and characterization of numerous RNA secondary and tertiary structure motifs. Because a large proportion of RNA structure can now be shown to be composed of these recurring structural motifs, a view of RNA as a modular structure built from a combination of these building blocks and tertiary linkers is beginning to emerge. At the same time, however, more detailed analysis of water, metal, ligand and protein binding to RNA is revealing the effect of these moieties on folding and structure formation. The balance between the views of RNA structure either as strictly a construct of preformed building blocks linked in a limited number of ways or as a flexible polymer assuming a global fold influenced by its environment will be the focus of current and future RNA structural biology. 相似文献
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