Abstract:
:Reciprocal probing has been used to identify a cDNA clone (xh8H11) representing a gene preferentially expressed in striated muscle. The gene maps close to DXS7101 31.9 cM from the short arm telomere of the X-chromosome at Xp22.1. On searching expressed and genomic databases, 21 expressed sequence tags were found that allowed the assignment of a human extended consensus sequence of 887 bp, suggesting a completely expressed gene symbolized as SMPX. By using the human consensus sequence, the orthologous mouse Smpx and rat SMPX genes could be aligned and confirmed by complete sequencing of additional SMPX-related clones obtained by library screening. An open reading frame was identified encoding a peptide of 88-86 and 85 amino acids in human and rodents, respectively. The predicted peptide had no significant homologies to known structural elements. The human consensus cDNA sequence was used to define the genomic structure of the human SMPX that had been missed by a previous large scale sequencing approach. The gene consists of five exons (> or =172, 57, 84, 148, > or =422 bp) and four introns (3639, 10410, 6052, 31134 bp) comprising together 52.1 kb and is preferentially and abundantly expressed in heart and skeletal muscle. Thus, a novel human gene encoding a small muscular protein that maps to Xp22.1 (SMPX) has been identified and structurally characterized as a basis for further functional analysis.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Patzak D,Zhuchenko O,Lee CC,Wehnert Mdoi
10.1007/s004390051138keywords:
subject
Has Abstractpub_date
1999-11-01 00:00:00pages
506-12issue
5eissn
0340-6717issn
1432-1203journal_volume
105pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291351
更新日期:1984-01-01 00:00:00
abstract::A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273310
更新日期:1979-02-15 00:00:00
abstract::We describe a common dystrophin gene polymorphism in the black population that alters both HindIII and BglII restriction sites. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00221965
更新日期:1992-08-01 00:00:00
abstract::Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02104-7
更新日期:2020-02-01 00:00:00
abstract::We have recently demonstrated tight linkage of the Duffy blood group marker to the alpha-spectrin gene in an extended pedigree with Charcot-Marie-Tooth neuropathy. To determine a more precise location of the Duffy blood group locus on the chromosome 1 map we have tested several more chromosome 1 genes for linkage with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278994
更新日期:1989-02-01 00:00:00
abstract::Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02172-0
更新日期:2020-10-01 00:00:00
abstract::The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274000
更新日期:1989-07-01 00:00:00
abstract::In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282555
更新日期:1986-11-01 00:00:00
abstract::We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279093
更新日期:1986-08-01 00:00:00
abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050395
更新日期:1997-04-01 00:00:00
abstract::The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281880
更新日期:1996-05-01 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::We have developed a new enzyme-linked immunosorbent assay for determination of H-Y phenotype in the human. This assay, which measures the inhibition of the reaction of a monoclonal anti-H-Y antibody and a mouse testis extract as a source of H-Y antigen, was applied to the supernatant of lymphocytes from ten normal mal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286517
更新日期:1984-01-01 00:00:00
abstract::The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283697
更新日期:1989-03-01 00:00:00
abstract::During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202819
更新日期:1994-05-01 00:00:00
abstract::A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281070
更新日期:1987-03-01 00:00:00
abstract::Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390236
更新日期:1979-01-01 00:00:00
abstract::The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050860
更新日期:1998-10-01 00:00:00
abstract::We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tested the candidates for association with healthy thinness in additional pedigree members while accounting for e...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1629-3
更新日期:2016-02-01 00:00:00
abstract::The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1009-2
更新日期:2003-11-01 00:00:00
abstract::The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000372
更新日期:2000-10-01 00:00:00
abstract::The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283735
更新日期:1988-12-01 00:00:00
abstract::Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1276-1
更新日期:2005-06-01 00:00:00
abstract::Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1076-8
更新日期:2012-02-01 00:00:00
abstract::Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0776-5
更新日期:2002-08-01 00:00:00
abstract::A patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the l...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209482
更新日期:1995-06-01 00:00:00
abstract::Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-012-1223-x
更新日期:2013-01-01 00:00:00
abstract::In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have genera...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273001
更新日期:1984-01-01 00:00:00
abstract::Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401242
更新日期:1986-07-01 00:00:00
abstract::Uterine fibroids (UFs) affect 77 % of women by menopause and account for $9.4 billion in yearly healthcare costs. We recently replicated findings from the first UF genome-wide association study (GWAS), conducted in the Japanese. Here we tested these GWAS-discovered SNPs for association with UF characteristics to furth...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1340-1
更新日期:2013-12-01 00:00:00