Abstract:
:By sequencing 11,405 individual expressed sequence tags (ESTs) from a cDNA library of a human skeletal muscle, we identified 1945 individual transcripts, 725 of which showed no correspondence with known human genes. We report here the chromosomal localization of 267 of these, obtained by radiation hybrid (RH) mapping. The map position of additional 242 ESTs from the same library, corresponding to known human genes, is also reported. The resulting information provides a preliminary genomic transcriptional profile of a human muscle. Several genes occur in clusters on different chromosomes. Moreover, chromosomes 17, 19, 21 and X appear to be significantly rich in muscle ESTs. By analysing several collections of ESTs from different tissues, we observed significant deviations in the distribution of ESTs by chromosome in fetal heart, adult brain and adult retina, supporting the hypothesis that a non-random localization of genes expressed in specific tissues might not be uncommon. The selective concentration of expressed genes in some chromosomes and in specific chromosomal subregions in a given tissue might reflect the existence of batteries of genes under the same control mechanisms, regulating tissue-specific gene expression.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Pallavicini A,Zimbello R,Tiso N,Muraro T,Rampoldi L,Bortoluzzi S,Valle G,Lanfranchi G,Danieli GAdoi
10.1093/hmg/6.9.1445subject
Has Abstractpub_date
1997-09-01 00:00:00pages
1445-50issue
9eissn
0964-6906issn
1460-2083pii
dda184journal_volume
6pub_type
杂志文章abstract::In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu537
更新日期:2015-03-01 00:00:00
abstract::CDH3/P-cadherin is a classical cadherin. Overexpression of which has been associated with proliferative lesions of high histological grade, decreased cell polarity and poor survival of patients with breast cancer. In vitro studies showed that it can be up-regulated by ICI 182,780, suggesting that the lack of ERalpha s...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq134
更新日期:2010-07-01 00:00:00
abstract::Congenital heart defects affect at least 0.8% of newborn children and are a major cause of lethality prior to birth. Malformations of the arterial pole are particularly frequent. The myocardium at the base of the pulmonary trunk and aorta and the arterial tree associated with these great arteries are derived from spla...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu232
更新日期:2014-10-01 00:00:00
abstract::Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to induce clinically relevant changes in muscle function is poorly u...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv155
更新日期:2015-08-01 00:00:00
abstract::Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRM...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt309
更新日期:2013-11-15 00:00:00
abstract::Employing the mouse homologue of the human choroideremia cDNA as a probe, we have identified a homologous human gene. The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs. The deduced polypeptide of hCHML displays several regions of hom...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/1.2.71
更新日期:1992-05-01 00:00:00
abstract::alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.12.1953
更新日期:1998-11-01 00:00:00
abstract::Superovulation or ovarian stimulation is currently an indispensable assisted reproductive technology (ART) for human subfertility/infertility treatment. Recently, increased frequencies of imprinting disorders have been correlated with ARTs. Significantly, for Angelman and Beckwith-Wiedemann Syndromes, patients have be...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp465
更新日期:2010-01-01 00:00:00
abstract::Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts and muscle of AOA1 patients carrying the common W279X mutation, and aprataxin has been localized...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv183
更新日期:2015-08-15 00:00:00
abstract::The MITF/TFE subfamily of basic helix-loop-helix leucine-zipper (bHLH-LZ) transcription factors consists of four closely related members, TFE3, TFEB, TFEC and MITF, which can form both homo- and heterodimers. Previously, we demonstrated that in t(X;1)(p11;q21)-positive renal cell carcinomas (RCCs), the TFE3 gene on th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg178
更新日期:2003-07-15 00:00:00
abstract::Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm229
更新日期:2007-11-15 00:00:00
abstract::While the presence of a lipoyl-containing protein (protein X) separate from lipoyl transacetylase in the pyruvate dehydrogenase complex (PDC) has been known for some time, until recently only the cDNA for the yeast enzyme has been cloned. We have cloned, sequenced and characterized the cDNA encoding the human protein ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.3.501
更新日期:1998-03-01 00:00:00
abstract::Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddv475
更新日期:2016-04-15 00:00:00
abstract::Huntington's disease (HD) is caused by the expansion mutation above a length threshold of a polyglutamine (polyQ) stretch in the huntingtin (Htt) protein. Mutant Htt (mHtt) pathogenicity is proposed to rely on its malfunction and propensity to misfold and aggregate. Htt has scaffolding properties and has been reported...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr178
更新日期:2011-07-15 00:00:00
abstract::We have constructed a long-range restriction map of the region on chromosome 4q that contains the gene for facioscapulohumeral muscular dystrophy (FSHD). This region contains the linkage group cen ... D4S163-D4S139-D4F35S1-D4F104S1-FSHD ... 4qter, which spans a genetic distance of about 5 cM. Pulse field gel electroph...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.10.1667
更新日期:1993-10-01 00:00:00
abstract::Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl447
更新日期:2007-02-01 00:00:00
abstract::PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/4.suppl_1.1717
更新日期:1995-01-01 00:00:00
abstract::Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5-10% of adRP cases among Americans and Europeans. We identified two American families with the RP10...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.5.559
更新日期:2002-03-01 00:00:00
abstract::The identification of multiple signals at individual loci could explain additional phenotypic variance ('missing heritability') of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression pro...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr328
更新日期:2011-10-15 00:00:00
abstract::The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg122
更新日期:2003-05-15 00:00:00
abstract::A DNA fragment isolated from a human genomic library, was reported to be present at all human centromeres and present at 16-32 copies per genome. Reintroduction of this DNA into mammalian cells as a concatenated phage clone gave rise to dicentric chromosomes which gave rise to a new, stable, chromosome. Taken together...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/1.9.749
更新日期:1992-12-01 00:00:00
abstract::Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt071
更新日期:2013-06-01 00:00:00
abstract::Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy083
更新日期:2018-05-15 00:00:00
abstract::Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage renal disease. The pathogenesis of defective PT cellular transpor...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt617
更新日期:2014-05-01 00:00:00
abstract::The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an in...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp119
更新日期:2009-06-01 00:00:00
abstract::Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.2.247
更新日期:1994-02-01 00:00:00
abstract::Cellular protein homeostasis is achieved by a delicate network of molecular chaperones and various proteolytic processes such as ubiquitin-proteasome system (UPS) to avoid a build-up of misfolded protein aggregates. The latter is a common denominator of neurodegeneration. Neurons are found to be particularly vulnerabl...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv445
更新日期:2016-01-15 00:00:00
abstract::Mutations of thymidine kinase 2 (TK2), an essential component of the mitochondrial nucleotide salvage pathway, can give rise to mitochondrial DNA (mtDNA) depletion syndromes (MDS). These clinically heterogeneous disorders are characterized by severe reduction in mtDNA copy number in affected tissues and are associated...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq043
更新日期:2010-05-01 00:00:00
abstract::Biased segregation of mitochondrial DNA variants has been widely documented, but little was known about its molecular basis. We set out to test the hypothesis that altering the balance between mitochondrial fusion and fission could influence the segregation of mutant and wild-type mtDNA variants, because it would modi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp281
更新日期:2009-09-15 00:00:00
abstract::Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn313
更新日期:2009-01-01 00:00:00