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Results for “Haplotype structures”

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PubMed1995

A transmissible gastroenteritis coronavirus nucleoprotein epitope elicits T helper cells that collaborate in the in vitro antibody synthesis to the three major structural viral proteins.

Four strong T cell epitopes have been identified studying the blastogenic response of lymphocytes from haplotype-defined transmissible gastroenteritis virus (TGEV) immune miniswine to sixty-one 15-mer synthetic peptides. Three of these epitopes are located on the nucleoprotein (N46, amino acids 46 to 60; N272, amino acids 272 to 286; and N321, amino acids 321 to 335), and one on the membrane protein (M196, amino acids 196 to 210). N321 peptide induced the highest T cell response and was recognized by immune miniswine lymphocytes with haplotypes dd, aa, and cc. T lymphocytes from peptide N321-immune miniswine reconstituted the in vitro synthesis of TGEV-specific antibodies by complementing CD4- TGEV-immune cells. This response was directed at least against the three major structural proteins. The synthesized antibodies specific for S protein preferentially recognized discontinuous epitopes and neutralized TGEV infectivity. These results show that peptide N321 defines a functional T helper epitope eliciting T cells capable of collaborating with B cells specific for different proteins of TGEV.

Amino Acid Sequence↗

PubMed2005

SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.

PURPOSE: To evaluate the association of myocilin (MYOC), optineurin (OPTN), and apolipoprotein E (APOE) genes and their interactions in primary open angle glaucoma (POAG). METHODS: A cohort of 400 unrelated POAG patients (294 high tension glaucoma, HTG, and 106 normal tension glaucoma, NTG) and 281 unrelated control subjects were recruited. All coding exons and splicing junctions in MYOC and OPTN were screened for sequence alterations. Common polymorphisms in APOE were genotyped. Single genes were investigated by univariate and haplotype analysis, and gene-gene interactions by logistic regression and stratified analysis. Multiple comparisons were corrected by the Bonferroni method. Bioinformatics analysis was performed to assess the conservation of mutation sites across species and to predict putative motifs and secondary structures in mutated proteins. RESULTS: Disease-causing mutations in MYOC and OPTN were identified in 1.75% and 1% of POAG patients, respectively. Most of these mutations were highly conserved across species, many predicted to create new motifs or change protein secondary structures. No individual MYOC polymorphisms significantly contributed to HTG or NTG. A haplotype containing the minor allele of the MYOC IVS2+35A>G increased NTG risk (p=0.0001). Three OPTN polymorphisms, T34T, IVS5+38T>G, and IVS8-53T>C increased NTG risk (p<0.0008), while IVS5+38T>G increased HTG risk (p=0.0006). One haplotype that contains the minor alleles of 3 OPTN polymorphisms, T34T, IVS5+38T>G, and IVS7+24G>A, increased NTG risk (p=0.0002). APOE epsilon4 carriers had a decreased NTG risk (p=0.007). Possible gene-gene interactions were found between MYOC, OPTN, and APOE. CONCLUSIONS: Disease-causing mutations in MYOC and OPTN accounted for only a small proportion of Chinese POAG patients. Common polymorphisms in MYOC, OPTN, and APOE might interactively contribute to POAG, indicating a polygenic etiology.

Adolescent↗

PubMed2005

Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels.

BACKGROUND: Using a linkage disequilibrium (LD)-based approach, we sought to comprehensively define common genetic variation at the plasminogen activator inhibitor-1 (PAI-1) locus and relate common single nucleotide polymorphisms (SNPs) and haplotypes to plasma PAI-1 levels. METHODS AND RESULTS: In reference pedigrees, we defined LD structure across a 50-kb genomic segment spanning the PAI-1 locus via a dense SNP map (1 SNP every 2 kb). Eighteen sequence variants that capture underlying common genetic variation were genotyped in 1328 unrelated Framingham Heart Study participants who had plasma PAI-1 antigen levels measured. Regression analyses were used to examine associations of individual SNPs and of inferred haplotypes with multivariable-adjusted PAI-1 levels. Two genetic variants, SNP rs2227631 and the 4G/5G polymorphism, were strongly associated (P<0.0001) with PAI-1 levels. SNP rs2227631 is in tight LD (D'=0.97, r2=0.78) with the 4G/5G polymorphism, which makes it difficult to distinguish which of these 2 polymorphisms is responsible for the association with PAI-1 levels. In stepwise analysis considering all polymorphisms tested, 3 SNPs, rs2227631 (or the correlated 4G/5G polymorphism), rs6465787, and rs2227674, each explained 2.5%, 1%, and 1%, respectively, of the residual variance in multivariable-adjusted PAI-1 levels (stepwise P<0.0001, P=0.04, and P=0.03, respectively). A single common haplotype, at 50% frequency among Framingham Heart Study participants, was strongly associated with higher PAI-1 levels (haplotype-specific P=0.00001). The susceptibility haplotype harbors the minor alleles of SNP rs2227631 and the 4G/5G polymorphism. CONCLUSIONS: Three sequence variants at the PAI-1 locus, in sum, explain approximately 5% of the residual variance in multivariable-adjusted PAI-1 levels. For quantitative cardiovascular traits such as circulating biomarkers, defining LD structure in a candidate gene followed by association analyses with both SNPs and haplotypes is an effective approach to localize common susceptibility alleles.

Aged↗

PubMed1998

Molecular resolution of marine turtle stock composition in fishery bycatch: a case study in the Mediterranean.

Based on an extensive sampling regime from both nesting populations and bycatch, frequency analyses of mitochondrial (mt) DNA control region haplotypes in the Mediterranean were used to assess the genetic structure and stock composition of the loggerhead sea turtle, Caretta caretta, in different marine fisheries. The analyses show the following. (i) In drifting longline fisheries working in Mediterranean pelagic habitats 53-55% of turtles caught originated from the Mediterranean stock; (ii) In bottom-trawl fisheries all turtle bycatch is derived from this regional stock; (iii) This regional stock contribution to fishery bycatch suggests that the population size of the Mediterranean loggerhead nesting population is significantly larger than previously thought. This is consistent with a recent holistic estimate based on the discovery of a large rookery in Libya. (iv) Present impact of fishery-related mortality on the Mediterranean nesting population is probably incompatible with its long-term conservation. Sea turtle conservation regulations are urgently needed for the Mediterranean fisheries. (v) The significant divergence of mtDNA haplotype frequencies of the Turkish loggerhead colonies define this nesting population as a particularly important management unit. Large immature and adult stages from this management unit seem to be harvested predominantly by Egyptian fisheries. (vi) Combined with other data, our findings suggest that all the nesting populations in the Mediterranean should be considered as management units sharing immature pelagic habitats throughout the Mediterranean (and possibly the eastern Atlantic), with distinct and more localized benthic feeding habitats in the eastern basin used by large immatures and adults. (vii) Between the strict oceanic pelagic and the benthic stages, immature turtles appear to live through an intermediate neritic stage, in which they switch between pelagic and benthic foods.

Animals↗

PubMed2000

The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.

In this study we have established the frequencies of the DRB1-DQA1-DQB1 haplotypes in a large cohort of Sardinian new-borns and found that the most frequent haplotypes were detected at frequencies unique to the Sardinians. Other haplotypes, common in other Caucasian populations, are rare or absent across the island. Next, the DRB1-DQA1-DQB1 haplotype frequencies obtained in Sardinians and those reported in other human populations were used to compute genetic distances and construct phylogenetic trees. A clear-cut pattern appeared with a split between the three major human groups: Caucasians, Asians and Blacks. Among the Caucasians there were three major clusters: a group representing the North-Africans, a group including most of the European-derived populations and a group encompassing Bulgaria, Greece and Sardinia. When we increased the resolution of the tree using the genetic distances calculated from both DRB1-DQA1-DQB1 haplotypes and class I HLA A, B, C allelic frequencies, the Sardinians clearly emerged as the major outlier among the various European populations considered in this study. These results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.

Genetics, Population↗

PubMed2003

Comparative analysis of the self-incompatibility (S-) locus region of Prunus mume: identification of a pollen-expressed F-box gene with allelic diversity.

BACKGROUND: Self-incompatibility (SI) in the Solanaceae, Rosaceae and Scrophulariaceae is gametophytically controlled by a single polymorphic locus, termed the S-locus. To date, the only known S-locus product is a polymorphic ribonuclease, termed S-RNase, which is secreted by stylar tissue and thought to act as a cytotoxin that degrades the RNA of incompatible pollen tubes. However, understanding how S-RNase causes S-haplotype specific inhibition of pollen tubes has been hampered by the lack of a cloned pollen S-determinant gene. RESULTS: To identify the pollen S-determinant gene, we investigated the genomic structure of the S-locus region of the S1- and S7-haplotypes of Prunus mume (Japanese apricot), and identified 13 genes around the S-RNase gene. Among them, only one F-box gene, termed SLF (S-locus F-box), fulfilled the conditions for a pollen S-determinant gene: (i) together with the S-RNase gene, it is located within the highly divergent genomic region of the S-locus, (ii) it exhibits S-haplotype specific diversity among three analysed S-haplotypes, and (iii) it is specifically expressed in pollen, but not in the styles or leaves. CONCLUSION: The results indicate that SLF is a prime candidate for the pollen S-determinant gene of SI.

Amino Acid Sequence↗

PubMed1993

The different level of expression of HLA-DRB1 and -DRB3 genes is controlled by conserved isotypic differences in promoter sequence.

HLA-DRB1 and -DRB3 are two genes encoding two distinct HLA-DR beta chains in the DRw52 family of haplotypes (DR3, DR5, DR13, and DR14). These beta chains determine the structural and functional identity of the two kinds of HLA-DR molecules expressed. The highly polymorphic HLA-DRB1 locus is always expressed at a higher level than the HLA-DRB3 locus, and functional assays indicate that the proximal promoter of DRB1 is indeed more active than that of DRB3. The DNA sequence of the two promoters in nine different DRw52 haplotypes has revealed a stricking allelic conservation as well as characteristic, isotype-specific, conserved-sequence motifs. These isotype-specific differences concern the functionally essential X and Y box motifs of HLA class II promoters, and they do indeed affect binding of specific nuclear factors to the X and Y boxes of DRB1 or DRB3 promoters. Finally, analysis of the activity of various normal and mutated DRB1 or DRB3 promoters indicates that the X box region of these promoters plays a dominant role in controlling the relative levels of HLA-DRB1 and -DRB3 gene expression.

Alkaline Phosphatase↗

PubMed2004

Phylogeography of subterranean and surface populations of water lice Asellus aquaticus (Crustacea: Isopoda).

The water louse Asellus aquaticus is a widespread, euryoecious species, mostly uniform throughout its range. However, six subspecies are known from the Dinaric karst in the northwestern Balkans. They include some specialized subterranean populations. The pattern of genetic variation among subterranean and surface populations in this hydrographically highly fragmented karst region was investigated using a 653 bp fragment of the mitochondrial gene (COI). Sequencing of 168 individuals from 25 localities revealed 72 haplotypes. amova and methods of phylogenetic reconstruction all uncovered hydrographic structuring of genetic variation of the populations. Nested clade analysis pointed out several fragmentation events, along with some range expansions within hydrographical systems. By superimposing the subterranean mode of life on the phylogeographical pattern, three independent cave colonizations could be inferred within a distance of < 100 km. Caves were invaded after the ancestral surface populations became isolated through vicariant fragmentation. A possible scenario of hydrographic history of the region was constructed combining the molecular data with palaeogeographical information.

Animals↗

PubMed1986

The molecular genetics of components of complement.

Rapid progress has been made in establishing linkages and in chromosome allocation of the genes of some 9 complement components. In the MHC, C2, Factor B, and two C4 or C4 related genes have been placed in some detail in both man and mouse. The gene coding for the cytochrome P-450 21-hydroxylase has been shown to be duplicated and immediately 3' to the two C4 genes, though it appears to be functionally and structurally unrelated to the complement components. Thus six genes have been mapped to this region where particular haplotypes are associated with increased susceptibility to a number of diseases, some of which are autoimmune in character. The complete gene structure of Factor B has been solved in man and rapid progress is being made with the C2 and C4 genes. The structural basis of the polymorphisms of these genes is being established. In C4, the polymorphism is exceptionally complex with varying numbers of loci and probably more than 50 allotypes occurring in man. A structural basis has also been found for the big differences in the biological activity of some of the C4 allotypes in man. Apart from the genes in the MHC, linkage has been found between the genes coding for C4bp, CR1, and Factor H. Remarkably there are sequence homologies between these proteins and C2 and Factor B, probably related to the ability to bind to one or other of the structurally similar proteins C3b and C4b. The complete cDNA sequences of C3 and C4 in mouse and man have given much information on the many posttranslational modifications of these proteins. A partial structure has been obtained for the C3 gene and the homology shown between C3, C4, C5, alpha 2-macroglobulin, and pregnancy zone protein. Although the amount of detailed information in the molecular genetics of complement components is accumulating rapidly, there appears to be a reasonable prospect that linkages and homologies will classify the data into a comprehensible form.

Alleles↗

PubMed2005

Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.

The flavin-containing monooxygenases (FMOs) are important for xenobiotic metabolism. FMO3, the predominant FMO enzyme in human adult liver, exhibits significant interindividual variation that is poorly understood. This study was designed to identify common FMO3 genetic variants and determine their potential for contributing to interindividual differences in FMO3 expression. FMO3 single nucleotide polymorphism (SNP) discovery was accomplished by resequencing DNA samples from the Coriell Polymorphism Discovery Resource. Population-specific SNP frequencies were determined by multiplexed, single-base extension using DNA from 201 Hispanic American (Mexican descent), 201 African American, and 200 White (northern European descent) subjects. Haplotypes were inferred and population frequencies estimated using PHASE version 2.1. Multiple site-directed mutagenesis was used to introduce inferred upstream haplotypes into an FMO3/luciferase construct for functional analysis in HepG2 cells. Sequence analysis revealed seven FMO3 upstream SNPs, 11 exon SNPs, and 22 intron SNPs. Five of the latter fell within consensus splice sites. A g.72G>T variant (E24D) is predicted to impact the structure of the Rossmann fold involved in FAD binding, whereas a g.11177C>A variant (N61K) is predicted to disrupt the secondary structure of a conserved membrane interaction domain. Seven common (>1%) promoter region haplotypes were inferred in one or more of the study populations that differed in estimated frequency among the groups. Haplotype 2 resulted in an 8-fold increase in promoter activity, whereas haplotypes 8 and 15 exhibited a near complete loss of activity. In conclusion, FMO3 promoter haplotype variants modulate gene function and probably contribute to interindividual differences in FMO3 expression.

Amino Acid Sequence↗

PubMed1984

Primary structural evidence that the H-2Dq region encodes at least three distinct gene products: Dq, Lq, and Rq.

Class I gene products D, L, and R encoded by the D region of the H-2q haplotype were isolated by sequential immunoprecipitation from Nonidet P-40 extracts of B10.AKM murine spleen cells. Primary structural comparisons of these molecules were made by tryptic peptide map analyses and radiochemical amino acid sequence determinations. Partial NH2-terminal radiosequence analyses of the peptides generated by CNBr cleavage of these three molecules defined the Rq molecule as a gene product that is distinct from the Dq and Lq molecules. Comparative tryptic peptide map analyses of [3H]arginine-, [3H]lysine-, or [3H]mannose-labeled molecules were performed to determine if the Dq and Lq molecules could be distinguished. The two molecules were identical in their [3H]lysine-labeled peptides (17 in common) and [3H]mannose-labeled glycopeptides but could be differentiated by their [3H]arginine-labeled peptides (18 of 21 in common). These results suggest an amino acid sequence homology of 99% or greater between the Dq and Lq molecules. These data therefore provide structural evidence for three D region gene products and suggest that their antigenic differences are not due to post-translational glycosylation differences. Thus, the D region of the H-2q haplotype may provide an example of a relatively recent class I gene duplication, indicating that these genes are in a dynamic state of evolution through expansion or contraction of the gene pool.

Amino Acid Sequence↗

PubMed2006

Mice, humans and haplotypes--the hunt for disease genes in SLE.

Defining the polymorphisms that contribute to the development of complex genetic disease traits is a challenging, although increasingly tractable problem. Historically, the technical difficulties in conducting association studies across the entire human genome are such that murine models have been used to generate candidate genes for analysis in human complex diseases, such as SLE. In this article we discuss the advantages and disadvantages of this approach and specifically address some assumptions made in the transition from studying one species to another, using lupus as an example. These issues include differences in genetic structure and genetic organisation which are a reflection on the population history. Clearly there are major differences in the histories of the human population and inbred laboratory strains of mice. Both human and murine genomes do exhibit structure at the genetic level. That is to say, they comprise haplotypes which are genomic regions that carry runs of polymorphisms that are not independently inherited. Haplotypes therefore reduce the number of combinations of the polymorphisms in the DNA in that region and facilitate the identification of disease susceptibility genes in both mice and humans. There are now novel means of generating candidate genes in SLE using mutagenesis (with ENU) in mice and identifying mice that generate antinuclear autoimmunity. In addition, murine models still provide a valuable means of exploring the functional consequences of genetic variation. However, advances in technology are such that human geneticists can now screen large fractions of the human genome for disease associations using microchip technologies that provide information on upwards of 100,000 different polymorphisms. These approaches are aimed at identifying haplotypes that carry disease susceptibility mutations and rely less on the generation of candidate genes.

Animals↗

PubMed1991

A new haplotype of the beta-globin gene complex, Hbbw1, in Chinese wild mouse.

A new pattern was observed in the electrophoretic survey of the hemoglobin beta chain (Hbb) in Chinese wild mice, Mus musculus. The electrophoretic mobility of the major component of the new Hbb was identical to that of Hbbs on cellulose acetate plate, although it was almost identical to that of Hbbd or Hbbp on acrylamide gel. This suggests that the major component of Chinese Hbb has a unique primary structure. A minor component of the new Hbb was completely different from that of the other three Hbb haplotypes well known. These results indicate that the Hbb-b1 and Hbb-b2 of the new Hbb haplotype, assigned Hbbw1, are unique genes in their molecular structure. So far, Hbbw1 has been observed in northwestern China.

Animals↗

PubMed2005

The invasive Korea and Japan types of Varroa destructor, ectoparasitic mites of the Western honeybee (Apis mellifera), are two partly isolated clones.

Varroa destructor, now a major pest of the Western honeybee, Apis mellifera, switched from its original host, the Eastern honeybee, A. cerana, ca. 50 years ago. So far, only two out of several known mitochondrial haplotypes of V. destructor have been found to be capable of reproducing on A. mellifera (Korea and Japan). These haplotypes are associated in almost complete cytonuclear disequilibrium to diagnostic alleles at 11 microsatellite loci. By contrast, microsatellite polymorphism within each type is virtually absent, because of a severe bottleneck at the time of host change. Accordingly, 12 mitochondrial sequences of 5185 nucleotides displayed 0.40% of nucleotide divergence between haplotypes and no intra haplotype variation. Hence, each type has a quasi-clonal structure. The nascent intratype variability is subsequent to the clone formation 50 years ago: in both types the variant alleles differ from the most common by one (in 10 cases), two (five cases) or three (one case) repeated motifs. In addition to individuals of the two 'pure' types, five F1 hybrids and 19 recombinant individuals (Japan alleles introgressed into the Korea genetic background) were detected. The existence of F1 and recombinant individuals in admixed populations requires that double infestations of honeybee cells occur in a high proportion but the persistence of pure types suggests a post-zygotic isolation between the two clones.

Animals↗

PubMed2006

Postglacial population expansion of Japanese macaques (Macaca fuscata) inferred from mitochondrial DNA phylogeography.

We investigated the diversity and phylogeography of mitochondrial DNA (mtDNA) in Japanese macaques (Macaca fuscata), an endemic species in Japan that has the northernmost distribution of any non-human primate species. DNA samples from 135 localities representing the entire range of this species were compared. A total of 53 unique haplotypes were observed for the 412-bp partial mtDNA control region sequence, with length variation distinguishing the two subspecies. Clustering analyses suggested two putative major haplogroups, of which one was geographically distributed in eastern Japan and the other in western Japan. The populations in the east showed lower mtDNA diversity than those in the west. Phylogeographical relationships of haplotypes depicted with minimum spanning network suggested differences in population structure. Population expansion was significant for the eastern but not the western population, suggesting establishment of the ancestral population was relatively long ago in the west and recent in the east. Based on fossil evidence and past climate and vegetation changes, we inferred that the postulated population expansion may have taken place after the last glacial period (after 15,000 years ago). Mitochondrial DNA showed contrasting results in both variability and phylogenetic status of local populations to those of previous studies using protein variations, particularly for populations in the periphery of the range, with special inference on habitat change during the glacial period in response to cold adaptation.

Animals↗

PubMed2002

Phylogeography of the common ivy (Hedera sp.) in Europe: genetic differentiation through space and time.

We studied the phylogeography of ivy (Hedera sp.), a liana widespread in Europe, throughout its natural range. The populations sampled belong to four closely related species differing by ploidy levels and morphological characters. Chloroplast (cp) markers were used and 13 haplotypes were detected, usually shared across species, contrary to ribosomal internal transcribed spacer (ITS) variants. We demonstrated the existence of a strong overall cpDNA phylogeographical structure. Several methods of data analysis were conducted to describe how this structure and the genetic diversity change through space and time. Southern populations, especially those from Spain, are the most divergent. Pairwise estimates of differentiation point to isolation by distance, and the existence of a latitudinal gradient of divergence was demonstrated using a regression procedure. Similarly, latitudinal differences in haplotype richness and diversity exist, as shown by population permutations ('differentiation through space'). Finally, we measured differentiation by taking into account successive levels of divergence between haplotypes ('differentiation through time'). Genetic differentiation turns out to be much greater when differences between closely related haplotypes are not considered. Further, these results indicate that the phylogeographical structure is essentially due to the relative distribution of the most similar haplotypes. Diversity decreases from south to north, whereas haplotype frequencies change longitudinally. It appears that Hedera survived in Spanish and Balkan refugia during the last ice age. A third refugium must have been present in the Alps or in Italy. During the northward expansion, the decrease in overall diversity was attenuated by some mixing of lineages at intermediate latitudes, resulting in comparatively higher levels of differentiation in the south.

Biological Evolution↗

PubMed2000

Genetic polymorphism of RhD-negative associated haplotypes in the Chinese.

The Rh blood group is the most polymorphic human blood group system, and is clinically significant in transfusion medicine. Individuals are classified as Rh-positive and Rh-negative depending on the presence or absence of the D antigen on the red cell surface. The RhD-negative trait could be generated by multiple genetic mechanisms, which have been shown to be ethnic group-dependent. In this study, we evaluated the status of seven RHD-specific exons (exons 3, 4, 5, 6, 7, 9, and 10) and RH intron 4 in 119 Chinese blood donors, using the sequence-specific primers polymerase chain reaction (SSP-PCR). Of the 87 individuals who were RhD-negative, 52 with the ce/ce, ce/cE, or Ce/ce genotype (60%) lacked the above seven RHD exons; 22 with the Ce/Ce or Ce/ce genotype (25%) had all the RHD exons examined; 13 with the Ce/ce genotype (15%) carried at least one RHD exon. Antigen association analysis suggested the existence of a novel class of RhD-negative associated haplotypes in the Chinese, tentatively denoted D(nf)Ce. The D(nf)Ce haplotype consisted of a normal RHCe allele and a nonfunctional RHD gene, which vary depending on the structure of the RHD gene. Among the RhD-negative Chinese, the estimated frequencies of the dce, dCe, and D(nf)Ce haplotypes were 0.7500, 0.0465, and 0.2035, respectively. No statistically significant deviation from Hardy-Weinberg equilibrium was observed using this genetic model.

China↗

PubMed2003

Structural and transcriptional analysis of the self-incompatibility locus of almond: identification of a pollen-expressed F-box gene with haplotype-specific polymorphism.

Gametophytic self-incompatibility in Rosaceae, Solanaceae, and Scrophulariaceae is controlled by the S locus, which consists of an S-RNase gene and an unidentified "pollen S" gene. An approximately 70-kb segment of the S locus of the rosaceous species almond, the S haplotype-specific region containing the S-RNase gene, was sequenced completely. This region was found to contain two pollen-expressed F-box genes that are likely candidates for pollen S genes. One of them, named SFB (S haplotype-specific F-box protein), was expressed specifically in pollen and showed a high level of S haplotype-specific sequence polymorphism, comparable to that of the S-RNases. The other is unlikely to determine the S specificity of pollen because it showed little allelic sequence polymorphism and was expressed also in pistil. Three other S haplotypes were cloned, and the pollen-expressed genes were physically mapped. In all four cases, SFBs were linked physically to the S-RNase genes and were located at the S haplotype-specific region, where recombination is believed to be suppressed, suggesting that the two genes are inherited as a unit. These features are consistent with the hypothesis that SFB is the pollen S gene. This hypothesis predicts the involvement of the ubiquitin/26S proteasome proteolytic pathway in the RNase-based gametophytic self-incompatibility system.

Amino Acid Sequence↗