Abstract:
:While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation. We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein. We show here that human and mouse jumonji putative proteins are homologous and present 90% identity. During human embryogenesis, JMJ mRNAs are predominantly expressed in neurons and particularly in dorsal root ganglion cells. They are also expressed in neurons of human adult cerebral cortex. In view of these observations, we propose JMJ as a candidate gene for developmental defects of the central nervous system in the human. The human JMJ gene maps at position 6p24-6p23.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Bergé-Lefranc JL,Jay P,Massacrier A,Cau P,Mattei MG,Bauer S,Marsollier C,Berta P,Fontes Mdoi
10.1093/hmg/5.10.1637subject
Has Abstractpub_date
1996-10-01 00:00:00pages
1637-41issue
10eissn
0964-6906issn
1460-2083journal_volume
5pub_type
杂志文章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::Lung cancer demonstrates the highest mortality in the UK. Previous studies have implicated allelic loss at chromosome 17q in the development of non-small cell lung carcinoma (NSCLC), and a number of known and putative tumour-suppressor genes reside within this region. One candidate tumour-suppressor gene is cytoglobin...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl128
更新日期:2006-07-01 00:00:00
abstract::Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified gen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu044
更新日期:2014-06-15 00:00:00
abstract::Actinic keratosis (AK) is a pre-malignant skin disease, highly prevalent in elderly Europeans. This study investigates genetic susceptibility to AK with a genome-wide association study (GWAS). A full body skin examination was performed in 3194 elderly individuals from the Rotterdam Study (RS) of exclusive north-wester...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv076
更新日期:2015-06-01 00:00:00
abstract::Immunoglobulins play an essential part in the immune system, and immunoglobulin deficiencies can have profound medical consequences. The genetic control and regulation of the immunoglobulin response is therefore of interest. Previous investigations have identified a number of loci influencing total and specific IgE le...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.1.27
更新日期:1998-01-01 00:00:00
abstract::Members of the peroxisome proliferator-activated receptor gamma coactivator (PGC) family are potent inducers of mitochondrial biogenesis. We have tested the potential effect of increased mitochondrial biogenesis in cells derived from patients harboring oxidative phosphorylation defects due to either nuclear or mitocho...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp093
更新日期:2009-05-15 00:00:00
abstract::Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt069
更新日期:2013-06-01 00:00:00
abstract::Prion diseases encompass a diverse group of neurodegenerative conditions characterized by the accumulation of misfolded prion protein (PrP) isoforms. Other conformational variants of PrP have also been proposed to contribute to neurotoxicity in prion diseases, including misfolded intermediates as well as cytosolic and...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt276
更新日期:2013-11-01 00:00:00
abstract::Mutations in the NF1 tumor suppressor gene cause Neurofibromatosis type 1 (NF1). Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity. Some NF1 patients develop cardiovascular disease, which represents an underrecognized disease complication and contributes to excess morbidity a...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds502
更新日期:2013-03-01 00:00:00
abstract::Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddh137
更新日期:2004-06-15 00:00:00
abstract::Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt615
更新日期:2014-05-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn156
更新日期:2008-08-15 00:00:00
abstract::Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females. Due to a paucity of adequately sized studies, the genetic determinants of circulating AMH levels are poorly characterized. In samples from 2815 adol...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv465
更新日期:2016-01-15 00:00:00
abstract::A long-term goal of modeling Huntington's disease (HD) is to recapitulate the cardinal features of the disease in mice that express both mutant and wild-type (WT) huntingtin (Htt), as HD commonly manifests as a heterozygous condition in humans, and loss of WT Htt is associated with loss-of-function. In a new heterozyg...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu166
更新日期:2014-09-01 00:00:00
abstract::Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression of LHON-associated mitochondrial DNA (mtDNA) mutations. By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv498
更新日期:2016-02-01 00:00:00
abstract::We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.13.1927
更新日期:2000-08-12 00:00:00
abstract::Emerging evidence implicates epigenetic mechanisms in the pathogenesis of rheumatoid arthritis (RA). In this study, we have investigated the role of histone deacetylase (HDAC) enzymes in RA synovial fibroblasts (RASFs), a key cellular mediator of cartilage and bone destruction and determined effects of HDAC1 inhibitio...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv258
更新日期:2015-10-01 00:00:00
abstract::Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw281
更新日期:2016-10-15 00:00:00
abstract::Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by mutations in the G6PC gene, encoding the catalytic subunit of glucose-6-phosphatase. Early symptoms include severe fasting intolerance, failure to thrive and hepatomegaly, biochemically associated with nonketotic hypoglycemia, fasting...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz283
更新日期:2020-01-15 00:00:00
abstract::Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur less frequently in infertile men and to be associated with a more severe testicular phenotype, with almost complete absence of...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.8.1161
更新日期:2000-05-01 00:00:00
abstract::Missense mutations and extra copies of the alpha-Synuclein gene result in Parkinson disease (PD). Human stem and progenitor cells can be expanded from embryonic tissues and provide a source of non-transformed neural cells to explore the effects of these pathogenic mutations specifically in human nervous tissue. We ove...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm008
更新日期:2007-03-15 00:00:00
abstract::The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is characterized mainly by short stature, cardiac anomalies and distinctive facial features. Mutations in multiple RAS-MAPK pathway-related genes have been associate...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz108
更新日期:2020-07-21 00:00:00
abstract::Epigenetic differences are a common feature of many diseases, including cancer, and disease-associated changes have even been detected in bodily fluids. DNA modification studies in circulating DNA (cirDNA) may lead to the development of specific non-invasive biomarkers. To test this hypothesis, we investigated cirDNA ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds192
更新日期:2012-08-15 00:00:00
abstract::Gelsolin amyloidosis is a dominantly inherited, incurable type of amyloidosis. A single point mutation in the gelsolin gene (G654A is most common) results in the loss of a Ca2+ binding site in the second gelsolin domain. Consequently, this domain partly unfolds and exposes an otherwise buried furin cleavage site at t...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx056
更新日期:2017-04-01 00:00:00
abstract::The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.4.697
更新日期:1999-04-01 00:00:00
abstract::IGF2 loss of imprinting (LOI) is fairly prevalent and implicated in the pathogenesis of human cancer and developmental disease; however, the causes of this phenomenon are largely unknown. We determined whether the post-weaning diet of mice affects allelic expression and CpG methylation of Igf2. C57BL/6JxCast/EiJ F1 hy...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi484
更新日期:2006-03-01 00:00:00
abstract::Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/9.6.967
更新日期:2000-04-12 00:00:00
abstract::γ-secretase is a macromolecular complex that catalyzes intramembranous hydrolysis of more than 100 membrane-bound substrates. The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa017
更新日期:2020-04-15 00:00:00
abstract::A spectrum of complex oligogenic disorders called the ciliopathies have been connected to dysfunction of cilia. Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meckel-Gruber syndrome (MKS), a gestational lethal condition with skeletal abnormaliti...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr198
更新日期:2011-08-01 00:00:00
abstract::XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.11.1985
更新日期:1997-10-01 00:00:00