Abstract:
:A proportion of human breast cancers result from an inherited predisposition to the disease. Mutations in the BRCA2 gene confer a high risk of breast cancer and are responsible for almost half of these cases. The recent cloning of the human BRCA2 gene has revealed that it encodes a large protein having little significant homology to known proteins. Here we describe the mouse Brca2 gene. The gene maps to mouse chromosome 5, consistent with its location on human chromosome 13q12. We have sequenced cDNA for the entire 3329 amino acid Brca2 protein and this has revealed that, like Brca1, Brca2 is relatively poorly conserved between humans and mice. Brca2 is transcribed in a diverse range of mouse tissues, and the pattern of expression is strikingly similar to that of Brca1. Taken together, our data highlight some intriguing similarities between two genes involved in inherited breast cancer susceptibility.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Connor F,Smith A,Wooster R,Stratton M,Dixon A,Campbell E,Tait TM,Freeman T,Ashworth Adoi
10.1093/hmg/6.2.291subject
Has Abstractpub_date
1997-02-01 00:00:00pages
291-300issue
2eissn
0964-6906issn
1460-2083pii
dda041journal_volume
6pub_type
杂志文章abstract::Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm225
更新日期:2007-11-15 00:00:00
abstract::Prevalence of coronary heart disease (CHD), of type 2 diabetes (T2DM) and of the metabolic syndrome are in Mauritius amongst the highest in the world. As T2DM and CHD are closely associated and have both a polygenic basis, we conducted a 10 cM genome scan with 403 microsatellite markers in 99 independent families of N...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.24.2751
更新日期:2001-11-15 00:00:00
abstract::Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy079
更新日期:2018-05-15 00:00:00
abstract::Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu190
更新日期:2014-09-15 00:00:00
abstract::A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age of onset of CAD. We sought to replicate these findings among white subjects and to examine whether these results are consistent with other racial/ethnic groups by genotyping three single ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn132
更新日期:2008-08-01 00:00:00
abstract::Inherited defects in the X-chromosomal adrenoleukodystrophy (ALD; ABCD1) gene are the genetic cause of the severe neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD). Biochemically the accumulation of very long-chain fatty acids, caused by impaired peroxisomal beta-oxidation, is the pathognomonic characte...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.18.2609
更新日期:2000-11-01 00:00:00
abstract::Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr385
更新日期:2011-12-01 00:00:00
abstract::Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor differentiation. Mutations in NR2E3, a rod-specific orphan nuclear receptor, lead to loss of rods, increased density of S-co...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl185
更新日期:2006-09-01 00:00:00
abstract::A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exch...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.12.2031
更新日期:1993-12-01 00:00:00
abstract::Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various prog...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.11.1877
更新日期:1993-11-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF be...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv257
更新日期:2015-10-01 00:00:00
abstract::To elucidate the molecular mechanisms of impaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing missense substitutions in fibulin-5, C217R and S227P. Pulse-chase immunoprecipitation experiments indicated that S227P mutant fibulin-5 was synthesized and secreted by skin fibrob...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl414
更新日期:2006-12-01 00:00:00
abstract::Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt559
更新日期:2014-04-01 00:00:00
abstract::We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. Linkage analys...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv171
更新日期:2015-08-15 00:00:00
abstract::Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their conte...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt479
更新日期:2014-02-15 00:00:00
abstract::The hippocampus has a highly ordered structure and is composed of distinct layers. Neuronal migration is an essential part of the process of the layer formation because neurons are primarily generated near the ventricle and must migrate to arrive at their final locations during brain development. Impairment of brain d...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr194
更新日期:2011-07-15 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::Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr450
更新日期:2012-01-01 00:00:00
abstract::Adoptively transferred antigen-specific T cells that recognize tumor antigens through their native receptors have many potential benefits as treatment for virus-associated diseases and malignancies, due to their ability to selectively recognize tumor antigens, expand and persist to provide long-term protection. Infusi...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddv270
更新日期:2015-10-15 00:00:00
abstract::Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.5.735
更新日期:2000-03-22 00:00:00
abstract::Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy092
更新日期:2018-05-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy223
更新日期:2018-10-01 00:00:00
abstract::Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx183
更新日期:2017-08-01 00:00:00
abstract::Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.11.1945
更新日期:1994-11-01 00:00:00
abstract::Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here we characterize a meaningful splicing model in which numerous Hemophilia B-causing mutations, either missense or at the donor splice site (5'ss) of coagulation...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv205
更新日期:2015-09-01 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::The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn048
更新日期:2008-06-01 00:00:00
abstract::Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg213
更新日期:2003-08-15 00:00:00
abstract::Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used t...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.11.1779
更新日期:1998-10-01 00:00:00
abstract::Although the varepsilon4 allele of the apolipoprotein E gene appears as an important biological marker for Alzheimer's disease (AD) susceptibility, other genetic determinants are clearly implicated in the AD process. Here, we propose that a genetic variation in the transcriptional factor LBP-1c/CP2/LSF gene, located c...
journal_title:Human molecular genetics
pub_type: 杂志文章,多中心研究
doi:10.1093/oxfordjournals.hmg.a018918
更新日期:2000-09-22 00:00:00