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人类肝细胞核因子-4(hHNF-4)基因定位于20号染色体长臂12区至13.1区,位于PLCG1和D20S17之间。

Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17.

作者信息

Argyrokastritis A, Kamakari S, Kapsetaki M, Kritis A, Talianidis I, Moschonas N K

机构信息

Institute of Molecular Biology and Biotechnology, Foundation of Research and Technology, Heraklion, Greece.

出版信息

Hum Genet. 1997 Feb;99(2):233-6. doi: 10.1007/s004390050345.

DOI:10.1007/s004390050345
PMID:9048927
Abstract

Human hepatocyte nuclear factor 4 (hHNF-4) is a member of the nuclear hormone receptor superfamily and an important transcription factor and developmental regulator of liver-specific genes. Distinct hHNF-4 cDNAs corresponding to various HNF-4 isoforms have been recently characterised. Three cDNAs, hHNF-4A, B and C, are considered splice variants of a single hHNF-4 gene. We have mapped hHNF-4 to 20q12-q13.1 between PLCG1 and D20S17 by genetic linkage analysis, taking advantage of an adjacent PstI restriction fragment length polymorphism, (RFLP), and by fluorescence in situ hybridisation. hHFN-4 maps to chromosome 20 in a region syntenic with mouse chromosome 2 where the hnf-4 homologue has been assigned.

摘要

人肝细胞核因子4(hHNF-4)是核激素受体超家族的成员,是肝脏特异性基因的重要转录因子和发育调节因子。最近已鉴定出与各种HNF-4亚型相对应的不同hHNF-4 cDNA。三个cDNA,即hHNF-4A、B和C,被认为是单个hHNF-4基因的剪接变体。我们通过遗传连锁分析,利用相邻的PstI限制性片段长度多态性(RFLP)以及荧光原位杂交,将hHNF-4定位到20q12-q13.1,位于PLCG1和D20S17之间。hHFN-4定位到20号染色体上与小鼠2号染色体同线的区域,其中已指定了hnf-4同源物。

相似文献

1
Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17.人类肝细胞核因子-4(hHNF-4)基因定位于20号染色体长臂12区至13.1区,位于PLCG1和D20S17之间。
Hum Genet. 1997 Feb;99(2):233-6. doi: 10.1007/s004390050345.
2
Isolation and characterization of a third isoform of human hepatocyte nuclear factor 4.人肝细胞核因子4第三种同工型的分离与鉴定
Gene. 1996 Sep 16;173(2):275-80. doi: 10.1016/0378-1119(96)00183-7.
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Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q.排除肝细胞核因子4α作为与20号染色体相关的晚发性非胰岛素依赖型糖尿病候选基因。
Diabetes. 1998 Jun;47(6):970-2. doi: 10.2337/diabetes.47.6.970.
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Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
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A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.20号染色体q12-q13.1区域的遗传图谱:多个与青年发病型糖尿病(MODY)位点连锁的高度多态性微卫星和限制性片段长度多态性(RFLP)标记。
Am J Hum Genet. 1993 Jan;52(1):110-23.
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Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4.四种肝细胞核因子的小鼠染色体定位:肝细胞核因子-3α、肝细胞核因子-3β、肝细胞核因子-3γ和肝细胞核因子-4 。
Genomics. 1992 Jun;13(2):264-8. doi: 10.1016/0888-7543(92)90241-j.
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Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p.在日本患病同胞对中进行的全基因组2型糖尿病搜索,证实了3号染色体长臂、15号染色体长臂和20号染色体长臂上的易感基因,并在7号染色体短臂和11号染色体短臂上鉴定出两个新的候选基因座。
Diabetes. 2002 Apr;51(4):1247-55. doi: 10.2337/diabetes.51.4.1247.
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Pancreatic islet expression studies and polymorphic DNA markers in the genes encoding hepatocyte nuclear factor-3alpha, -3beta, -3gamma, -4gamma, and -6.胰腺胰岛表达研究以及编码肝细胞核因子-3α、-3β、-3γ、-4γ和-6的基因中的多态性DNA标记
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Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes.人类肝细胞核因子4亚型由不同且差异表达的基因编码。
Mol Cell Biol. 1996 Mar;16(3):925-31. doi: 10.1128/MCB.16.3.925.
10
A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.位于20号染色体上的肝细胞核因子4α基因上游启动子区域的一种常见多态性与2型糖尿病相关,并且似乎为阿什肯纳兹犹太人群体中的连锁证据提供了支持。
Diabetes. 2004 Apr;53(4):1134-40. doi: 10.2337/diabetes.53.4.1134.

引用本文的文献

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Association Analysis of the HNF4A Common Genetic Variants with Type 2 Diabetes Mellitus Risk.肝细胞核因子4A常见基因变异与2型糖尿病风险的关联分析
Int J Mol Cell Med. 2019 Winter;8(Suppl1):56-62. doi: 10.22088/IJMCM.BUMS.8.2.56. Epub 2019 Aug 28.
2
Prediabetes is associated with HNF-4 α P2 promoter polymorphism rs1884613: a case-control study in Han Chinese population and an updated meta-analysis.糖尿病前期与肝细胞核因子-4α P2启动子多态性rs1884613相关:一项汉族人群病例对照研究及更新的荟萃分析
Dis Markers. 2014;2014:231736. doi: 10.1155/2014/231736. Epub 2014 Oct 15.
3
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
2型糖尿病的候选基因关联研究表明,参与β细胞功能以及胰岛素作用的基因发挥了作用。
PLoS Biol. 2003 Oct;1(1):E20. doi: 10.1371/journal.pbio.0000020. Epub 2003 Oct 13.