Pub Date : 2001-01-01DOI: 10.3109/10425170109047567
P. Thomas, I. Nasonkin, Hongquan Zhang, R. Gagel, G. Cote
We report the cloning, genomic organization and sequence of the mouse α-CALC and β-CALC genes. The two genes share extensive sequence homology. The transcription units of both genes contain 6 exons. Transcripts of the α-CALC gene were found to alternatively include exon 4 or exons 5 and 6. For the β-CALC gene exon 4 was not detected in transcripts derived from this gene. The predicted mouse α-CGRP was found to be identical to rat α-CGRP, however, β-CGRP predicted amino acid sequences revealed three amino acid differences suggesting these residues are not critical to CGRP function.
{"title":"Structure of the Mouse Calcitonin/Calcitonin Gene-Related Peptide Alpha and Beta Genes","authors":"P. Thomas, I. Nasonkin, Hongquan Zhang, R. Gagel, G. Cote","doi":"10.3109/10425170109047567","DOIUrl":"https://doi.org/10.3109/10425170109047567","url":null,"abstract":"We report the cloning, genomic organization and sequence of the mouse α-CALC and β-CALC genes. The two genes share extensive sequence homology. The transcription units of both genes contain 6 exons. Transcripts of the α-CALC gene were found to alternatively include exon 4 or exons 5 and 6. For the β-CALC gene exon 4 was not detected in transcripts derived from this gene. The predicted mouse α-CGRP was found to be identical to rat α-CGRP, however, β-CGRP predicted amino acid sequences revealed three amino acid differences suggesting these residues are not critical to CGRP function.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"2 1","pages":"131 - 135"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78978459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109025005
Koji Yoshida, Yasuyuki Suzuki, H. Sinohara
Contrapsin is a member of the serpin superfamily and inhibits trypsin much more strongly than αi-antiproteinase. Mouse and rat contrapsins, however, have similarity in sequence to human α1 -antichymotrypsin. In order to test the hypothesis that reactive site regions of contrapsin family evolved under strong selective pressure, cDNA sequence of C57BL/6 mouse contrapsin was determined and compared with that of ICR mouse. The cDNA sequence of C57BL/6 mouse contrapsin was found to contain an open reading frame encoding polypeptide consisting of 418 amino acid residues. The work reported in this paper shows that the reactive site is not hypervariable as compared with the rest of molecule.
{"title":"Short Communication: Molecular Cloning and Sequence Analysis of C57BL/6 Mouse Contrapsin cDNA","authors":"Koji Yoshida, Yasuyuki Suzuki, H. Sinohara","doi":"10.3109/10425170109025005","DOIUrl":"https://doi.org/10.3109/10425170109025005","url":null,"abstract":"Contrapsin is a member of the serpin superfamily and inhibits trypsin much more strongly than αi-antiproteinase. Mouse and rat contrapsins, however, have similarity in sequence to human α1 -antichymotrypsin. In order to test the hypothesis that reactive site regions of contrapsin family evolved under strong selective pressure, cDNA sequence of C57BL/6 mouse contrapsin was determined and compared with that of ICR mouse. The cDNA sequence of C57BL/6 mouse contrapsin was found to contain an open reading frame encoding polypeptide consisting of 418 amino acid residues. The work reported in this paper shows that the reactive site is not hypervariable as compared with the rest of molecule.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"13 1","pages":"289 - 291"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81791071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109025003
F. Umeda, T. Nishikawa, H. Miyasaka, I. Maeda, M. Kawase, Kiyohito Yagγ
Recently, we have cloned and analyzed two polyhydroxyalkanoate (PHA) synthase genes (phaC1 and phaC2 in the pha cluster) from Pseudomonas aureofaciens. In this report, the deduced amino acid (AA) sequences of PHA synthase 1 and PHA synthase 2 from P. aureofaciens are compared with those from three other bacterial strains (Pseudomonas sp. 61–3, P. oleovorans and P. aeruginosa) containing the homologous pha cluster. The level of homology of either PHA synthase 1 or PHA synthase 2 was high with each enzyme from these three bacterial strains. Furthermore, multialignment of PHA synthase AA sequences implied that both enzymes of PHA synthase 1 and PHA synthase 2 were highly conserved in the four strains including P. aureofaciens.
最近，我们从金黄色假单胞菌中克隆并分析了两个聚羟基烷酸酯(PHA)合成酶基因(PHA簇中的phaC1和phaC2)。本文将金黄色葡萄球菌的PHA合成酶1和PHA合成酶2的氨基酸序列与含有同源PHA簇的假单胞菌(Pseudomonas sp. 61-3, P. oleovorans和P. aeruginosa)进行了比较。三种菌株的PHA合成酶1和PHA合成酶2的同源性均较高。此外，PHA合成酶AA序列的多重比对表明，PHA合成酶1和PHA合成酶2在包括金黄色葡萄球菌在内的4株菌株中均高度保守。
{"title":"Short Communication: Homology Study of Two Polyhydroxyalkanoate (PHA) Synthases from Pseudomonas Aureofaciens","authors":"F. Umeda, T. Nishikawa, H. Miyasaka, I. Maeda, M. Kawase, Kiyohito Yagγ","doi":"10.3109/10425170109025003","DOIUrl":"https://doi.org/10.3109/10425170109025003","url":null,"abstract":"Recently, we have cloned and analyzed two polyhydroxyalkanoate (PHA) synthase genes (phaC1 and phaC2 in the pha cluster) from Pseudomonas aureofaciens. In this report, the deduced amino acid (AA) sequences of PHA synthase 1 and PHA synthase 2 from P. aureofaciens are compared with those from three other bacterial strains (Pseudomonas sp. 61–3, P. oleovorans and P. aeruginosa) containing the homologous pha cluster. The level of homology of either PHA synthase 1 or PHA synthase 2 was high with each enzyme from these three bacterial strains. Furthermore, multialignment of PHA synthase AA sequences implied that both enzymes of PHA synthase 1 and PHA synthase 2 were highly conserved in the four strains including P. aureofaciens.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"174 1","pages":"281 - 284"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76648428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109084470
A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol
Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested.
{"title":"The Gene Causing the Best's Macular Dystrophy (BMD) Encodes a Putative Ion Exchanger","authors":"A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol","doi":"10.3109/10425170109084470","DOIUrl":"https://doi.org/10.3109/10425170109084470","url":null,"abstract":"Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"17 1","pages":"431 - 435"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90572522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109041337
K. Liby, Huiyun Wu, B. Ouyang, Shecao Wu, Jie Chen, W. Dai
Murine serum inducible kinase (mSnk) was recently cloned and characterized as an early-growth response gene involved in cell proliferation. Here we report the isolation and characterization of its human homologue, named hSnk. Sequence comparison shows that hSnk is highly conserved and its deduced protein sequence shares a significant amino acid identity with mSnk and rSnk proteins, as well as with other polo family kinase gene products. A survey ofhSnk expression reveals that while a wide variety of human tissues express a low to moderate level of hSnk transcripts, fetal tissues, testis, and spleen express the most abundant hSnk transcripts. In addition, serum stimulation rapidly induces hSnk expression in fibroblast cells, reaching the peak level of induction within one hour post treatment. Considering that Plk and Prk, two other known human polo-family kinases, control cell cycle checkpoint and cell cycle progression, our current observations suggest that hSnk may also play an important role in cells undergoing rapid cell division or having a high mitotic index.
{"title":"Identification of the Human Homologue of the Early-Growth Response Gene Snk, Encoding a Serum-Inducible Kinase","authors":"K. Liby, Huiyun Wu, B. Ouyang, Shecao Wu, Jie Chen, W. Dai","doi":"10.3109/10425170109041337","DOIUrl":"https://doi.org/10.3109/10425170109041337","url":null,"abstract":"Murine serum inducible kinase (mSnk) was recently cloned and characterized as an early-growth response gene involved in cell proliferation. Here we report the isolation and characterization of its human homologue, named hSnk. Sequence comparison shows that hSnk is highly conserved and its deduced protein sequence shares a significant amino acid identity with mSnk and rSnk proteins, as well as with other polo family kinase gene products. A survey ofhSnk expression reveals that while a wide variety of human tissues express a low to moderate level of hSnk transcripts, fetal tissues, testis, and spleen express the most abundant hSnk transcripts. In addition, serum stimulation rapidly induces hSnk expression in fibroblast cells, reaching the peak level of induction within one hour post treatment. Considering that Plk and Prk, two other known human polo-family kinases, control cell cycle checkpoint and cell cycle progression, our current observations suggest that hSnk may also play an important role in cells undergoing rapid cell division or having a high mitotic index.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"18 1","pages":"527 - 533"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88713621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109041338
A. Miranda-Vizuete, G. Spyrou
Thiol-disulfide interchange reactions are one of the most important regulatory systems in cells. Two kinds of molecules are responsible for this process: non-protein low molecular weight thiols and thiol-containing proteins of higher molecular weight (Zlieger, 1985). Among the first type, glutathione arises as the most important reductant in cell, while thioredoxin (Trx), glutaredoxin (Grx) and protein disulfide isomer-ase (PDI) are the best known examples of regulatory proteins by thiol-disulfide interchange reactions (Holmgren, 1989). Thioredoxins and glutaredoxins share many common features like being small, heat-stable, globular proteins (around 12 kDa), with a similar tridimensional structure (thioredoxin fold) and both using NADPH as source of reducing equivalents (Holmgren, 1989). However, while the electron from NADPH is transferred to the flavoenzyme thioredoxin reductase that in turn reduces thioredoxin (the so-called thioredoxin system), glutaredoxin is reduced by the sequential transfer of reducing power from NADPH to glutathione reductase and glutathione (the so-called glutaredoxin system) (Holmgren, 1989). Once reduced, Trx and Grx can act as general disulfide oxidoreductases with preference shown by Trx for peptide substrates while Grx shows preference for low-molecular weight dithiol- containing molecules (Holmgren, 1989). Grx was initially discovered as an alternative hydrogen donor for the essential enzyme ribonucleotide reductase in a thioredoxin-deficient mutant of E. coli (Holmgren, 1976; Holmgren, 1979). Since then Grx has also been shown to be an electron donor for enzymes like adenosine 3′-phos- phate-5′-phosphosulfate reductase and methionine sulfoxide reductase, functions that Trx also displays (Holmgren, 1989). In addition, Grx has been implicated in deiodination of thyroxine to triiodothyronine and has shown dehydroascor- bate reductase activity that generates ascorbic acid which protects neutrophils against the deleterious effects of the respiratory burst (Goswami and Rosenberg, 1985; Park and Levine, 1996).
{"title":"Identification of the First Human Glutaredoxin Pseudogene Localized to Human Chromosome 20qll.2","authors":"A. Miranda-Vizuete, G. Spyrou","doi":"10.3109/10425170109041338","DOIUrl":"https://doi.org/10.3109/10425170109041338","url":null,"abstract":"Thiol-disulfide interchange reactions are one of the most important regulatory systems in cells. Two kinds of molecules are responsible for this process: non-protein low molecular weight thiols and thiol-containing proteins of higher molecular weight (Zlieger, 1985). Among the first type, glutathione arises as the most important reductant in cell, while thioredoxin (Trx), glutaredoxin (Grx) and protein disulfide isomer-ase (PDI) are the best known examples of regulatory proteins by thiol-disulfide interchange reactions (Holmgren, 1989). Thioredoxins and glutaredoxins share many common features like being small, heat-stable, globular proteins (around 12 kDa), with a similar tridimensional structure (thioredoxin fold) and both using NADPH as source of reducing equivalents (Holmgren, 1989). However, while the electron from NADPH is transferred to the flavoenzyme thioredoxin reductase that in turn reduces thioredoxin (the so-called thioredoxin system), glutaredoxin is reduced by the sequential transfer of reducing power from NADPH to glutathione reductase and glutathione (the so-called glutaredoxin system) (Holmgren, 1989). Once reduced, Trx and Grx can act as general disulfide oxidoreductases with preference shown by Trx for peptide substrates while Grx shows preference for low-molecular weight dithiol- containing molecules (Holmgren, 1989). Grx was initially discovered as an alternative hydrogen donor for the essential enzyme ribonucleotide reductase in a thioredoxin-deficient mutant of E. coli (Holmgren, 1976; Holmgren, 1979). Since then Grx has also been shown to be an electron donor for enzymes like adenosine 3′-phos- phate-5′-phosphosulfate reductase and methionine sulfoxide reductase, functions that Trx also displays (Holmgren, 1989). In addition, Grx has been implicated in deiodination of thyroxine to triiodothyronine and has shown dehydroascor- bate reductase activity that generates ascorbic acid which protects neutrophils against the deleterious effects of the respiratory burst (Goswami and Rosenberg, 1985; Park and Levine, 1996).","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"26 1","pages":"535 - 539"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76951198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-01-01DOI: 10.3109/10425170109042050
A. Kato, Ritsuko Nishi And, Masahiko Ozak1
We isolated and determined the nucleotide sequences of two genes encoding ubiquitin fused to a ribosomal protein, Ub-CEP52, from rice (Oryza saliva L.). The deduced amino-acid sequences of the two genes were found to be completely identical. The N-terminal region of 76 residues corresponds to ubiquitin, and the C-terminal region of 53 residues corresponds to ribosomal protein L40. A putative TATA-like sequence, a polypyrimidine sequence, and a similar sequence to telo-box were found in the promoter regions of the two genes. Furthermore, the putative tRNA ro gene was found in the 5′-upstream region of one of them.
{"title":"Isolation and Characterization of Two Genes Encoding Ubiquitin Fused to a Ribosomal Protein of 53 Amino Acids in Rice","authors":"A. Kato, Ritsuko Nishi And, Masahiko Ozak1","doi":"10.3109/10425170109042050","DOIUrl":"https://doi.org/10.3109/10425170109042050","url":null,"abstract":"We isolated and determined the nucleotide sequences of two genes encoding ubiquitin fused to a ribosomal protein, Ub-CEP52, from rice (Oryza saliva L.). The deduced amino-acid sequences of the two genes were found to be completely identical. The N-terminal region of 76 residues corresponds to ubiquitin, and the C-terminal region of 53 residues corresponds to ribosomal protein L40. A putative TATA-like sequence, a polypyrimidine sequence, and a similar sequence to telo-box were found in the promoter regions of the two genes. Furthermore, the putative tRNA ro gene was found in the 5′-upstream region of one of them.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"1 1","pages":"53 - 58"},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90771377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2000-01-01DOI: 10.3109/10425170009033988
Songshan Jiang, Jun Yu, Jian Wang, Zeng Tan, H. Xue, G. Feng, Lin He, H. Yang
G ABA (gamma-aminobutyric acid), as the main inhibitory neurotransmitter in the brain, plays an essential role for the overall balance between neuronal excitation and inhibition by acting on GABAA receptors, which are ligand-gated chloride channels. Impaired GABAergic function contributes to certain forms of epilepsy, schizophrenia, Alzheimer's Disease, and other neurological disorders. In order to identify possible genetic features and to further study biological regulation of GABAA receptor genes whose promoter elements and sequence anomalies may contribute to epileptic disorders, as an initial step, we shot-gun sequenced a BAC clone, dj082c10 (195,909-bp in size), encompassing human γ2 subunit of GABAA receptor (GABRG2). It is, we believe, the first genomic sequence of the GABA receptor gamma subunit family. Four contigs were assembled from 2950 reads prior to gap in an average redundancy of eight folds over the entire region. The precision of the consensus sequence was predicted to be 99.999% after closing gaps and finishing weak regions. The nine exons of GABRG2 spans an 85-kb region that had 81 SINEs comprising 22.32%, and nine LI elements comprising 3.40%, respectively. However, the density of L1 in the regions flanking GABRG2 gene (29.45% by 45 elements) is significantly higher than that within the gene. The length of GABRG2 introns varies in the range of 1.5 kb to 38.1 kb.
{"title":"Complete Genomic Sequence of 195 Kb of Human DNA Containing the Gene GABRG2","authors":"Songshan Jiang, Jun Yu, Jian Wang, Zeng Tan, H. Xue, G. Feng, Lin He, H. Yang","doi":"10.3109/10425170009033988","DOIUrl":"https://doi.org/10.3109/10425170009033988","url":null,"abstract":"G ABA (gamma-aminobutyric acid), as the main inhibitory neurotransmitter in the brain, plays an essential role for the overall balance between neuronal excitation and inhibition by acting on GABAA receptors, which are ligand-gated chloride channels. Impaired GABAergic function contributes to certain forms of epilepsy, schizophrenia, Alzheimer's Disease, and other neurological disorders. In order to identify possible genetic features and to further study biological regulation of GABAA receptor genes whose promoter elements and sequence anomalies may contribute to epileptic disorders, as an initial step, we shot-gun sequenced a BAC clone, dj082c10 (195,909-bp in size), encompassing human γ2 subunit of GABAA receptor (GABRG2). It is, we believe, the first genomic sequence of the GABA receptor gamma subunit family. Four contigs were assembled from 2950 reads prior to gap in an average redundancy of eight folds over the entire region. The precision of the consensus sequence was predicted to be 99.999% after closing gaps and finishing weak regions. The nine exons of GABRG2 spans an 85-kb region that had 81 SINEs comprising 22.32%, and nine LI elements comprising 3.40%, respectively. However, the density of L1 in the regions flanking GABRG2 gene (29.45% by 45 elements) is significantly higher than that within the gene. The length of GABRG2 introns varies in the range of 1.5 kb to 38.1 kb.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"11 1","pages":"373 - 382"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74015005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2000-01-01DOI: 10.3109/10425170009033995
B. Shmukler, S. Wilhelm, S. Alper
The human AE1 anion exchanger gene SLC4A1 encodes the C1-/HC03-exchangers of the erythrocyte and the Type Acid-secreting intercalated cell basolateral membrane. Mutations in SLC4A1 have been correspondingly linked with autosomal dominant hereditary spherocytotic anemia and with both dominant and recessive forms of distal renal tubular acidosis. Murine knockouts in the slc4a1Ae1 gene have also been generated, and lack erythroid and renal expression. However, intragenic polymorphic markers for the slc4a1 gene have been unavailable. Here we report that a previously identified CA repeat element of intron 13 of the murine Ae1 gene exhibits strain-specific length polymorphism.
{"title":"Short Sequence Repeat Polymorphism in the Mouse slc4al Gene Encoding the AE1 C1-/HCO3- Exchanger","authors":"B. Shmukler, S. Wilhelm, S. Alper","doi":"10.3109/10425170009033995","DOIUrl":"https://doi.org/10.3109/10425170009033995","url":null,"abstract":"The human AE1 anion exchanger gene SLC4A1 encodes the C1-/HC03-exchangers of the erythrocyte and the Type Acid-secreting intercalated cell basolateral membrane. Mutations in SLC4A1 have been correspondingly linked with autosomal dominant hereditary spherocytotic anemia and with both dominant and recessive forms of distal renal tubular acidosis. Murine knockouts in the slc4a1Ae1 gene have also been generated, and lack erythroid and renal expression. However, intragenic polymorphic markers for the slc4a1 gene have been unavailable. Here we report that a previously identified CA repeat element of intron 13 of the murine Ae1 gene exhibits strain-specific length polymorphism.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"5 1","pages":"447 - 450"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79010826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2000-01-01DOI: 10.3109/10425170009033994
Zi-Wei Yang, M. Mooney, R. Ferrell
Normal development of the mammalian skull requires differentiation and coordination of all the outgrowing bones, particularly at sites of articulation knows as sutures. Such growth is necessary to accommodate an enlarging brain., Approximately 1 in 2500 human infants is born with craniosynostosis, the premature fusion of one or more calvarial sutures. This condition disrupts allometric growth and results in classic craniofacial features, including abnormal head shape, protruding eyes and midface underdevelopment (Hunter and Rudd, 1976; 1977; Lajeunie et al., 1995; 1996). Approximately 100 syndromes which include craniosynostosis are known and these syndromes are usually monogenic with an autosomal dominant mode of transmission. Recently, a number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as a cause of simple craniosynostosis and syndromes which include craniosynostosis as part of the phenotype, including Pfeiffer, Crouzon and Jackson-Weiss syndromes (Webster and Donoghue, 1997). The FGFRs are high-affinity receptors for the fibroblast growth factors, a family of at least 13 structurally related proteins (Smallwood et al., 1996) involved in a wide range of biological processes, including cell growth, differentiation, migration, wound healing and angiogenesis, depending on the target cell type and developmental stage (Basilico and Moscatelli, 1992; Fernig and Gallagher, 1994). The four FGFRs that have been described thus far exhibit a similar structure, consisting of an extracellular region made of three immunoglobulin-like (Ig-like) domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (Jaye et al., 1992; Partanen et al., 1993).
哺乳动物颅骨的正常发育需要所有长出来的骨头的分化和协调，特别是在被称为缝合线的关节部位。这样的生长对于适应不断扩大的大脑是必要的。大约每2500个婴儿中就有1个出生时患有颅缝闭闭，即一条或多条颅骨缝合线过早融合。这种情况会破坏异速生长，导致典型的颅面特征，包括头部形状异常、眼睛突出和中脸发育不全(Hunter and Rudd, 1976;1977;Lajeunie et al.， 1995;1996)。包括颅缝闭锁在内的大约100种综合征是已知的，这些综合征通常是单基因的，具有常染色体显性传播模式。最近，在成纤维细胞生长因子受体(FGFR)家族的4个成员中的3个中发现了一些突变，这些突变是导致单纯性颅缝闭塞和包括颅缝闭塞作为表型一部分的综合征的原因，包括Pfeiffer, Crouzon和Jackson-Weiss综合征(Webster和Donoghue, 1997)。fgfr是成纤维细胞生长因子的高亲和力受体，成纤维细胞生长因子是一个由至少13种结构相关蛋白组成的家族(Smallwood等，1996)，根据靶细胞类型和发育阶段，参与广泛的生物过程，包括细胞生长、分化、迁移、伤口愈合和血管生成(Basilico和Moscatelli, 1992;ferning and Gallagher, 1994)。迄今为止所描述的四种fgfr具有相似的结构，包括由三个免疫球蛋白样结构域组成的细胞外区域，单个疏水膜跨越段和细胞质酪氨酸激酶结构域(Jaye et al.， 1992;Partanen et al.， 1993)。
{"title":"Cloning and Sequencing of the Rabbit FGFR2 cDN A","authors":"Zi-Wei Yang, M. Mooney, R. Ferrell","doi":"10.3109/10425170009033994","DOIUrl":"https://doi.org/10.3109/10425170009033994","url":null,"abstract":"Normal development of the mammalian skull requires differentiation and coordination of all the outgrowing bones, particularly at sites of articulation knows as sutures. Such growth is necessary to accommodate an enlarging brain., Approximately 1 in 2500 human infants is born with craniosynostosis, the premature fusion of one or more calvarial sutures. This condition disrupts allometric growth and results in classic craniofacial features, including abnormal head shape, protruding eyes and midface underdevelopment (Hunter and Rudd, 1976; 1977; Lajeunie et al., 1995; 1996). Approximately 100 syndromes which include craniosynostosis are known and these syndromes are usually monogenic with an autosomal dominant mode of transmission. Recently, a number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as a cause of simple craniosynostosis and syndromes which include craniosynostosis as part of the phenotype, including Pfeiffer, Crouzon and Jackson-Weiss syndromes (Webster and Donoghue, 1997). The FGFRs are high-affinity receptors for the fibroblast growth factors, a family of at least 13 structurally related proteins (Smallwood et al., 1996) involved in a wide range of biological processes, including cell growth, differentiation, migration, wound healing and angiogenesis, depending on the target cell type and developmental stage (Basilico and Moscatelli, 1992; Fernig and Gallagher, 1994). The four FGFRs that have been described thus far exhibit a similar structure, consisting of an extracellular region made of three immunoglobulin-like (Ig-like) domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (Jaye et al., 1992; Partanen et al., 1993).","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"29 1","pages":"439 - 446"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81771532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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