Abstract:
:A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated from breast cancer cells (MCF7). Its oestrogen-inducible gene, and the human homologue to the porcine spasmolytic peptide gene (hSP/SML1) appear synchronously expressed in healthy stomach mucosa and several carcinomas of the gastrointestinal tract. Both genes were shown to be localised at 21q22.3. A new trefoil peptide from human intestinal mucosa (hITF/hP1.B) and its gene were described recently. By using suitable oligonucleotide primers and PCR and isolating large (110-250 kb) genomic recombinants cloned in the bacterial artificial chromosome (BAC) system, we present a genomic region from chromosome band 21q22.3 cloned in contiguous sequences and encoding all three members of human P-domain/trefoil peptides proving a physical linkage of all three trefoil peptide genes. Such genomic sequences will provide useful experimental material for analysis of gene regulation, for gene modification experiments and for establishing transgenic cells or animals.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Beck S,Schmitt H,Shizuya H,Blin N,Gött Pdoi
10.1007/s004390050198subject
Has Abstractpub_date
1996-08-01 00:00:00pages
233-5issue
2eissn
0340-6717issn
1432-1203journal_volume
98pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207048
更新日期:1992-04-01 00:00:00
abstract::Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278178
更新日期:1988-02-01 00:00:00
abstract::As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1949-1
更新日期:2019-09-01 00:00:00
abstract::New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050531
更新日期:1997-09-01 00:00:00
abstract::Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194217
更新日期:1990-10-01 00:00:00
abstract::This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1065-y
更新日期:2011-09-01 00:00:00
abstract::In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000403
更新日期:2000-11-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050995
更新日期:1999-06-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050326
更新日期:1997-01-01 00:00:00
abstract::Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4 kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the ele...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207056
更新日期:1992-04-01 00:00:00
abstract::Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0732-8
更新日期:2009-12-01 00:00:00
abstract::An apparently different chromosome abnormality was observed in unstimulated blood cultures from an acute non-lymphocytic leukemic child: 11q- with G banding techniques and 17q- with R banding techniques. The abnormality is explained as a t(11;17) translocation, and the discrepancy between the G- and R-band patterns di...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278862
更新日期:1981-01-01 00:00:00
abstract::High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02039-z
更新日期:2019-10-01 00:00:00
abstract::A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyotyped. Their karyotypes were 46,XX; 46,XX/46,XX,t(2;2)(2p2p;2q2q); and 46,XY. The karyotypes of the parents wer...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272305
更新日期:1978-01-19 00:00:00
abstract::Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282541
更新日期:1986-11-01 00:00:00
abstract::By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209016
更新日期:1991-09-01 00:00:00
abstract::Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00393612
更新日期:1977-07-26 00:00:00
abstract::Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2. We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI. As mutations in exon 45 exhibit mild to lethal phenotypes, we tested if disruption of an exonic spl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1006-9
更新日期:2011-11-01 00:00:00
abstract::The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220089
更新日期:1992-11-01 00:00:00
abstract::The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291506
更新日期:1976-05-19 00:00:00
abstract::We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050561
更新日期:1997-10-01 00:00:00
abstract::The noninvasive method presented, using an "air culturing" technique, is capable of enriching for fetal cells in lymphocyte cultures of maternal blood. Through a combination of Y-body fluorescence and chromosomal heteromorphisms in the maternal blood, the fetal cells can be detected and used for the prenatal diagnosis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282176
更新日期:1988-08-01 00:00:00
abstract::Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02113-x
更新日期:2020-01-16 00:00:00
abstract::To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1500-y
更新日期:2015-02-01 00:00:00
abstract::Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not bee...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1457-x
更新日期:2014-10-01 00:00:00
abstract::Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278728
更新日期:1978-12-29 00:00:00
abstract::Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220543
更新日期:1992-05-01 00:00:00
abstract::A correlation between the amount of rDNA and the frequency of participation in satellite associations is observed in a double-satellited human acrocentric chromosome. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270407
更新日期:1976-01-28 00:00:00
abstract::An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293878
更新日期:1984-01-01 00:00:00