Cloning of contiguous genomic fragments from human chromosome 21 harbouring three trefoil peptide genes.

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 Genet

journal_title

Human genetics

authors

Beck S,Schmitt H,Shizuya H,Blin N,Gött P

doi

10.1007/s004390050198

subject

Has Abstract

pub_date

1996-08-01 00:00:00

pages

233-5

issue

2

eissn

0340-6717

issn

1432-1203

journal_volume

98

pub_type

杂志文章
  • The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

    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

    authors: De Braekeleer M,Hechtman P,Andermann E,Kaplan F

    更新日期:1992-04-01 00:00:00

  • c-Ha-ras-1 alleles in bladder cancer, Wilms' tumour and malignant melanoma.

    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

    authors: Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

    更新日期:1988-02-01 00:00:00

  • Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

    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

    authors: Slavotinek A

    更新日期:2019-09-01 00:00:00

  • Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

    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

    authors: Dryja TP,Morrow JF,Rapaport JM

    更新日期:1997-09-01 00:00:00

  • Variability in expression of common fragile sites: in search of a new criterion.

    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

    authors: Jordan DK,Burns TL,Divelbiss JE,Woolson RF,Patil SR

    更新日期:1990-10-01 00:00:00

  • Biobanks and the phantom public.

    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

    authors: Gottweis H,Chen H,Starkbaum J

    更新日期:2011-09-01 00:00:00

  • Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia.

    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

    authors: Yao YG,Watkins WS,Zhang YP

    更新日期:2000-11-01 00:00:00

  • Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

    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

    authors: Whatley SD,Woolf JR,Elder GH

    更新日期:1999-06-01 00:00:00

  • Endomitosis: a reappraisal.

    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

    authors: Therman E,Sarto GE,Stubblefield PA

    更新日期:1983-01-01 00:00:00

  • Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.

    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

    authors: Weber G,Grimmond S,Lagercrantz J,Friedman E,Phelan C,Carson E,Hayward N,Jacobovitz O,Nordenskjöld M,Larsson C

    更新日期:1997-01-01 00:00:00

  • Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic variants and the PvuII polymorphism in southern African populations.

    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

    authors: Coetzee MJ,Bartleet SC,Ramsay M,Jenkins T

    更新日期:1992-04-01 00:00:00

  • Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.

    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

    authors: McDonough CW,Bostrom MA,Lu L,Hicks PJ,Langefeld CD,Divers J,Mychaleckyj JC,Freedman BI,Bowden DW

    更新日期:2009-12-01 00:00:00

  • Discrepancy between G and R bands. Example of an acute non-lymphocytic leukemia.

    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

    authors: Berger R,Bernheim A,Schaison G

    更新日期:1981-01-01 00:00:00

  • Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.

    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

    authors: Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

    更新日期:2019-10-01 00:00:00

  • Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2.

    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

    authors: Ohama K,Kusumi I,Takahara H,Kajii T

    更新日期:1978-01-19 00:00:00

  • DNA finger printing by oligonucleotide probes specific for simple repeats.

    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

    authors: Ali S,Müller CR,Epplen JT

    更新日期:1986-11-01 00:00:00

  • A 5'-truncated c-myc gene variant not associated with a risk of cancer.

    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

    authors: Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

    更新日期:1991-09-01 00:00:00

  • Rapid determination of polyploidy in human chorionic tissue sections.

    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

    authors: Riekki K,Baillie JE,Nair KK,Dill FJ,Poland BJ,Baillie DL

    更新日期:1977-07-26 00:00:00

  • Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.

    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

    authors: Kaneko H,Kitoh H,Matsuura T,Masuda A,Ito M,Mottes M,Rauch F,Ishiguro N,Ohno K

    更新日期:2011-11-01 00:00:00

  • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

    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

    authors: Dittrich B,Robinson WP,Knoblauch H,Buiting K,Schmidt K,Gillessen-Kaesbach G,Horsthemke B

    更新日期:1992-11-01 00:00:00

  • Tricho-rhino-phalangeal syndrome. The first case in Japan.

    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

    authors: Fukushima N,Anakura M,Arashima S,Matsuda I,Ohsawa T

    更新日期:1976-05-19 00:00:00

  • Two SRY-negative XX male brothers without genital ambiguity.

    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

    authors: Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

    更新日期:1997-10-01 00:00:00

  • A noninvasive method for determination of the sex and karyotype of the fetus from the maternal blood.

    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

    authors: Selypes A,Lorencz R

    更新日期:1988-08-01 00:00:00

  • The genetic architecture of morphological abnormalities of the sperm tail.

    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

    authors: Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

    更新日期:2020-01-16 00:00:00

  • Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

    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

    authors: Li Q,Wojciechowski R,Simpson CL,Hysi PG,Verhoeven VJ,Ikram MK,Höhn R,Vitart V,Hewitt AW,Oexle K,Mäkelä KM,MacGregor S,Pirastu M,Fan Q,Cheng CY,St Pourcain B,McMahon G,Kemp JP,Northstone K,Rahi JS,Cumberland PM,M

    更新日期:2015-02-01 00:00:00

  • Human gene copy number variation and infectious disease.

    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

    authors: Hollox EJ,Hoh BP

    更新日期:2014-10-01 00:00:00

  • A genetic study of two French Guiana Amerindian populations. I. Serum proteins and red cell enzymes.

    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

    authors: Tchen P,Bois E,Séger J,Grenand P,Feingold N,Feingold J

    更新日期:1978-12-29 00:00:00

  • Missense mutations and the magnitude of functional deficit: the example of factor IX.

    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

    authors: Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

    更新日期:1992-05-01 00:00:00

  • Satellite-association frequency and rDNA content of a double-satellited chromosome.

    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

    authors: Henderson AS,Atwood KC

    更新日期:1976-01-28 00:00:00

  • Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

    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

    authors: Moller M,García-Cruz D,Rivera H,Sánchez-Corona J,Cantú JM

    更新日期:1984-01-01 00:00:00