当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

Abstract：

:The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice and is a key factor for the regulation of the insulin gene in the beta-cells of the endocrine pancreas. Targeted disruption of the Ipf1 gene encoding IPF1 in transgenic mice results in a failure of the pancreas to develop (pancreatic agenesis). Here, we report the identification of a single nucleotide deletion within codon 63 of the human IPF1 gene (13q12.1) in a patient with pancreatic agenesis. The patient is homozygous for the point deletion, whereas both parents are heterozygotes for the same mutation. The deletion was not found in 184 chromosomes from normal individuals, indicating that the mutation is unlikely to be a rare polymorphism. The point deletion causes a frame shift at the C-terminal border of the transactivation domain of IPF1 resulting in the translation of 59 novel codons before termination, aminoproximal to the homeodomain essential for DNA binding. Expression of mutant IPF1 in Cos-1 cells confirms the expression of a prematurely terminated truncated protein of 16 kD. Thus, the affected patient should have no functional IPF1 protein. Given the essential role of IPF1 in pancreas development, it is likely that this autosomal recessive mutation is the cause of the pancreatic agenesis phenotype in this patient. Thus, IPF1 appears to be a critical regulator of pancreas development in humans as well as mice.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Stoffers DA,Zinkin NT,Stanojevic V,Clarke WL,Habener JF

doi

10.1038/ng0197-106

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

106-10

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

15

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Untangling the genetics from the epigenetics in pancreatic cancer metastasis.

    abstract：:Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3798

    authors： Vakoc CR,Tuveson DA

    更新日期：2017-02-24 00:00:00

  • A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.

    abstract：:PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1415

    authors： Ding H,Wu X,Boström H,Kim I,Wong N,Tsoi B,O'Rourke M,Koh GY,Soriano P,Betsholtz C,Hart TC,Marazita ML,Field LL,Tam PP,Nagy A

    更新日期：2004-10-01 00:00:00

  • Molecular portraits and the family tree of cancer.

    abstract：:The twenty-first century heralds a new era for the biological sciences and medicine. The tools of our time are allowing us to analyze complex genomes more comprehensively than ever before. A principal technology contributing to this explosion of information is the DNA microarray, which enables us to study genome-wide ...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/ng1038

    authors： Chung CH,Bernard PS,Perou CM

    更新日期：2002-12-01 00:00:00

  • A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

    abstract：:We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue inv...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1323

    authors： Bottini N,Musumeci L,Alonso A,Rahmouni S,Nika K,Rostamkhani M,MacMurray J,Meloni GF,Lucarelli P,Pellecchia M,Eisenbarth GS,Comings D,Mustelin T

    更新日期：2004-04-01 00:00:00

  • The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

    abstract：:The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1943

    authors： Rogaeva E,Meng Y,Lee JH,Gu Y,Kawarai T,Zou F,Katayama T,Baldwin CT,Cheng R,Hasegawa H,Chen F,Shibata N,Lunetta KL,Pardossi-Piquard R,Bohm C,Wakutani Y,Cupples LA,Cuenco KT,Green RC,Pinessi L,Rainero I,Sorbi S,

    更新日期：2007-02-01 00:00:00

  • Mining the human genome using microarrays of open reading frames.

    abstract：:To test the hypothesis that the human genome project will uncover many genes not previously discovered by sequencing of expressed sequence tags (ESTs), we designed and produced a set of microarrays using probes based on open reading frames (ORFs) in 350 Mb of finished and draft human sequence. Our approach aims to ide...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/81613

    authors： Penn SG,Rank DR,Hanzel DK,Barker DL

    更新日期：2000-11-01 00:00:00

  • Mekk3 is essential for early embryonic cardiovascular development.

    abstract：:The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/73550

    authors： Yang J,Boerm M,McCarty M,Bucana C,Fidler IJ,Zhuang Y,Su B

    更新日期：2000-03-01 00:00:00

  • Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

    abstract：:A recessive mutation in the tub gene causes obesity, deafness and retinal degeneration in tubby mice. The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates and invertebrates. The TULP proteins share ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0298-174

    authors： Hagstrom SA,North MA,Nishina PL,Berson EL,Dryja TP

    更新日期：1998-02-01 00:00:00

  • Establishment of functional imprinting of the H19 gene in human developing placentae.

    abstract：:We have found that the imprinted H19 gene can be expressed either biallelically or monoallelically in the developing human placentae. H19 biallelic expression is confined to the placenta until 10 weeks of gestation, after which it becomes exclusively maternal, and does not affect allele-specificity or levels of IGF2 e...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0795-318

    authors： Jinno Y,Ikeda Y,Yun K,Maw M,Masuzaki H,Fukuda H,Inuzuka K,Fujishita A,Ohtani Y,Okimoto T

    更新日期：1995-07-01 00:00:00

  • Correlation between transcriptome and interactome mapping data from Saccharomyces cerevisiae.

    abstract：:Genomic and proteomic approaches can provide hypotheses concerning function for the large number of genes predicted from genome sequences. Because of the artificial nature of the assays, however, the information from these high-throughput approaches should be considered with caution. Although it is possible that more ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng776

    authors： Ge H,Liu Z,Church GM,Vidal M

    更新日期：2001-12-01 00:00:00

  • Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene.

    abstract：:Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0793-233

    authors： Sabouri LA,Mahadevan MS,Narang M,Lee DS,Surh LC,Korneluk RG

    更新日期：1993-07-01 00:00:00

  • Genomic and molecular characterization of esophageal squamous cell carcinoma.

    abstract：:Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mut...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2935

    authors： Lin DC,Hao JJ,Nagata Y,Xu L,Shang L,Meng X,Sato Y,Okuno Y,Varela AM,Ding LW,Garg M,Liu LZ,Yang H,Yin D,Shi ZZ,Jiang YY,Gu WY,Gong T,Zhang Y,Xu X,Kalid O,Shacham S,Ogawa S,Wang MR,Koeffler HP

    更新日期：2014-05-01 00:00:00

  • Cryptic boundaries in roof plate and choroid plexus identified by intersectional gene activation.

    abstract：:The hindbrain roof plate and choroid plexus are essential organizing centers for inducing dorsal neuron fates and sustaining neuron function. To map the formation of these structures, we developed a broadly applicable, high resolution, recombinase-based method for mapping the fate of cells originating from coordinates...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1228

    authors： Awatramani R,Soriano P,Rodriguez C,Mai JJ,Dymecki SM

    更新日期：2003-09-01 00:00:00

  • Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.

    abstract：:Genetic integrity is crucial to normal cell function, and mutations in genes required for DNA replication and repair underlie various forms of genetic instability and disease, including cancer. One structural feature of intact genomes is runs of homopolymeric dC/dG. Here we describe an unusual mutator phenotype in Cae...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng928

    authors： Cheung I,Schertzer M,Rose A,Lansdorp PM

    更新日期：2002-08-01 00:00:00

  • Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia.

    abstract：:The Ras signal transduction pathway is often deregulated in human myeloid leukaemia. For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase acti...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0296-137

    authors： Largaespada DA,Brannan CI,Jenkins NA,Copeland NG

    更新日期：1996-02-01 00:00:00

  • Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

    abstract：:Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, an...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3561

    authors： Helgadottir A,Gretarsdottir S,Thorleifsson G,Hjartarson E,Sigurdsson A,Magnusdottir A,Jonasdottir A,Kristjansson H,Sulem P,Oddsson A,Sveinbjornsson G,Steinthorsdottir V,Rafnar T,Masson G,Jonsdottir I,Olafsson I,Eyjolfsson

    更新日期：2016-06-01 00:00:00

  • ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

    abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.59

    authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

    更新日期：2008-01-01 00:00:00

  • Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

    abstract：:Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the mig...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2259

    authors： Bonnard C,Strobl AC,Shboul M,Lee H,Merriman B,Nelson SF,Ababneh OH,Uz E,Güran T,Kayserili H,Hamamy H,Reversade B

    更新日期：2012-05-13 00:00:00

  • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

    abstract：:Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.381

    authors： Barrett JC,Clayton DG,Concannon P,Akolkar B,Cooper JD,Erlich HA,Julier C,Morahan G,Nerup J,Nierras C,Plagnol V,Pociot F,Schuilenburg H,Smyth DJ,Stevens H,Todd JA,Walker NM,Rich SS,Type 1 Diabetes Genetics Consortium.

    更新日期：2009-06-01 00:00:00

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    abstract：:Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0396-333

    authors： Tavtigian SV,Simard J,Rommens J,Couch F,Shattuck-Eidens D,Neuhausen S,Merajver S,Thorlacius S,Offit K,Stoppa-Lyonnet D,Belanger C,Bell R,Berry S,Bogden R,Chen Q,Davis T,Dumont M,Frye C,Hattier T,Jammulapati S,Jane

    更新日期：1996-03-01 00:00:00

  • Haplotype-resolved genome analyses of a heterozygous diploid potato.

    abstract：:Potato (Solanum tuberosum L.) is the most important tuber crop worldwide. Efforts are underway to transform the crop from a clonally propagated tetraploid into a seed-propagated, inbred-line-based hybrid, but this process requires a better understanding of potato genome. Here, we report the 1.67-Gb haplotype-resolved ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-020-0699-x

    authors： Zhou Q,Tang D,Huang W,Yang Z,Zhang Y,Hamilton JP,Visser RGF,Bachem CWB,Robin Buell C,Zhang Z,Zhang C,Huang S

    更新日期：2020-10-01 00:00:00

  • Pyruvate kinase deficiency in mice protects against malaria.

    abstract：:The global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1260

    authors： Min-Oo G,Fortin A,Tam MF,Nantel A,Stevenson MM,Gros P

    更新日期：2003-12-01 00:00:00

  • Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.

    abstract：:Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0200-2

    authors： Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

    更新日期：2018-09-01 00:00:00

  • Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

    abstract：:Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1097-190

    authors： Jansen GA,Ofman R,Ferdinandusse S,Ijlst L,Muijsers AO,Skjeldal OH,Stokke O,Jakobs C,Besley GT,Wraith JE,Wanders RJ

    更新日期：1997-10-01 00:00:00

  • A genome-wide association study identifies two new risk loci for Graves' disease.

    abstract：:Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls....

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.898

    authors： Chu X,Pan CM,Zhao SX,Liang J,Gao GQ,Zhang XM,Yuan GY,Li CG,Xue LQ,Shen M,Liu W,Xie F,Yang SY,Wang HF,Shi JY,Sun WW,Du WH,Zuo CL,Shi JX,Liu BL,Guo CC,Zhan M,Gu ZH,Zhang XN,Sun F,Wang ZQ,Song ZY,Zou CY

    更新日期：2011-08-14 00:00:00

  • Iron on the brain.

    abstract：:Accumulations of iron are often detected in the brains of people suffering from neurodegenerative diseases. But it is often not known whether such accumulations contribute directly to disease progression. The identification of the genes mutated in two such disorders suggests that errors in iron metabolism do indeed ha...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/91036

    authors： Rouault TA

    更新日期：2001-08-01 00:00:00

  • Another piece of the autism puzzle.

    abstract：:A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng0610-478

    authors： State MW

    更新日期：2010-06-01 00:00:00

  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

    abstract：:Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for repli...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2249

    authors： Estrada K,Styrkarsdottir U,Evangelou E,Hsu YH,Duncan EL,Ntzani EE,Oei L,Albagha OM,Amin N,Kemp JP,Koller DL,Li G,Liu CT,Minster RL,Moayyeri A,Vandenput L,Willner D,Xiao SM,Yerges-Armstrong LM,Zheng HF,Alonso N,E

    更新日期：2012-04-15 00:00:00

  • Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation.

    abstract：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3621

    authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

    更新日期：2016-09-01 00:00:00

  • Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat.

    abstract：:Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0196-44

    authors： Brown DM,Provoost AP,Daly MJ,Lander ES,Jacob HJ

    更新日期：1996-01-01 00:00:00