基因组印记：对人类疾病的影响。
Genomic imprinting: implications for human disease.
作者信息
Falls J G, Pulford D J, Wylie A A, Jirtle R L
机构信息
Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina27710, USA.
出版信息
Am J Pathol. 1999 Mar;154(3):635-47. doi: 10.1016/S0002-9440(10)65309-6.
Abstract
Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.
摘要
基因组印记是指基因的一种表观遗传标记，导致单等位基因表达。这种依赖于亲本来源的现象是孟德尔遗传学定律的一个显著例外。印记基因与胎儿发育和行为发育密切相关。因此，这些基因的异常表达会导致包括致癌作用在内的多种人类遗传疾病。本文综述了基因组印记及其在人类疾病中的作用。有关印记基因的更多信息可在基因组印记网站http://www.geneimprint.com上找到。
相似文献
1
Genomic imprinting: implications for human disease.基因组印记：对人类疾病的影响。
Am J Pathol. 1999 Mar;154(3):635-47. doi: 10.1016/S0002-9440(10)65309-6.
2
[Epigenetic modification of the genetic material. Genomic imprinting and its significance for disease in human beings].[遗传物质的表观遗传修饰。基因组印记及其对人类疾病的意义]
Ugeskr Laeger. 2001 Jun 4;163(23):3218-22.
3
Genomic imprinting and its relevance to genetic diseases.基因组印记及其与遗传疾病的相关性。
Jpn J Hum Genet. 1996 Dec;41(4):351-61. doi: 10.1007/BF01876325.
4
[Genomic imprinting and hereditary diseases].[基因组印记与遗传性疾病]
Tidsskr Nor Laegeforen. 1999 Feb 28;119(6):835-8.
5
Genomic imprinting: concept and clinical consequences.基因组印记：概念与临床后果。
Ann Med. 1999 Feb;31(1):4-11. doi: 10.3109/07853899909019258.
6
[Genomic imprinting and human disease--toward the elucidation of the imprinting mechanism].[基因组印记与人类疾病——迈向印记机制的阐明]
Seikagaku. 1997 Dec;69(12):1378-84.
7
Genomic imprinting in disorders of growth.生长障碍中的基因组印记
Endocrinol Metab Clin North Am. 1996 Sep;25(3):503-21. doi: 10.1016/s0889-8529(05)70338-8.
8
Parental imprinting and human disease.亲本印记与人类疾病。
Annu Rev Genet. 1996;30:173-95. doi: 10.1146/annurev.genet.30.1.173.
9
Genomic imprinting disorders in humans: a mini-review.人类基因组印迹疾病：小型综述。
J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):477-86. doi: 10.1007/s10815-009-9353-3. Epub 2009 Oct 21.
10
[Parental genomic imprinting and its implications in growth].[亲本基因组印记及其对生长的影响]
Arch Pediatr. 1997;4(2 Suppl 2):125s-130s. doi: 10.1016/s0929-693x(97)86478-0.
引用本文的文献
1
Mechanism of parent-of-origin effects revealed by multi-omic data in euro-chinese hybrid pigs.欧洲猪与中国猪杂交后代多组学数据揭示的亲本来源效应机制
Nat Commun. 2025 Aug 14;16(1):7542. doi: 10.1038/s41467-025-62243-6.
2
The SUV39 Family of H3K9 Methyltransferases in Skeletal Muscle Stem Cells.骨骼肌干细胞中H3K9甲基转移酶的SUV39家族
FASEB Bioadv. 2025 May 3;7(6):e70014. doi: 10.1096/fba.2024-00102. eCollection 2025 Jun.
3
Methylation Status at DMRs of C14MC and C19MC in Spermatozoa and Chorionic Villi of Individuals Experiencing Recurrent Spontaneous Abortions.反复自然流产个体精子和绒毛膜中C14MC和C19MC差异甲基化区域的甲基化状态
Reprod Sci. 2025 Jan;32(1):150-157. doi: 10.1007/s43032-024-01737-y. Epub 2024 Nov 22.
4
Selective Effect of DNA N6-Methyladenosine Modification on Transcriptional Genetic Variations in East Asian Samples.DNA N6-甲基腺苷修饰对东亚人群转录遗传变异的选择性影响。
Int J Mol Sci. 2024 Sep 27;25(19):10400. doi: 10.3390/ijms251910400.
5
Efficient inference of parent-of-origin effect using case-control mother-child genotype data.利用病例对照母婴基因型数据高效推断亲本来源效应
J Stat Plan Inference. 2024 Dec;233. doi: 10.1016/j.jspi.2024.106190. Epub 2024 May 9.
6
Identification and Validation of Novel Metastasis-Related Immune Gene Signature in Breast Cancer.乳腺癌中新型转移相关免疫基因特征的鉴定与验证
Breast Cancer (Dove Med Press). 2024 Apr 12;16:199-219. doi: 10.2147/BCTT.S448642. eCollection 2024.
7
Factors and Mechanisms of Thyroid Hormone Activity in the Brain: Possible Role in Recovery and Protection.脑内甲状腺激素活性的影响因素和机制：在恢复和保护中的可能作用。
Biomolecules. 2024 Feb 7;14(2):198. doi: 10.3390/biom14020198.
8
Novel epigenetic molecular therapies for imprinting disorders.针对印记疾病的新型表观遗传分子疗法。
Mol Psychiatry. 2023 Aug;28(8):3182-3193. doi: 10.1038/s41380-023-02208-7. Epub 2023 Aug 25.
9
Developmental origins of diabetes mellitus: Environmental epigenomics and emerging patterns.糖尿病的发育起源：环境表观基因组学与新兴模式。
J Diabetes. 2023 Jul;15(7):569-582. doi: 10.1111/1753-0407.13403. Epub 2023 May 16.
10
Characterization of IGF2R Molecular Expression in Canine Osteosarcoma as Part of a Novel Comparative Oncology Approach.鉴定 IGF2R 分子在犬骨肉瘤中的表达，作为新型比较肿瘤学方法的一部分。
Int J Mol Sci. 2023 Jan 18;24(3):1867. doi: 10.3390/ijms24031867.
本文引用的文献
1
The imprinting box of the mouse Igf2r gene.小鼠Igf2r基因的印记盒
Nature. 1999 Jan 7;397(6714):84-8. doi: 10.1038/16291.
2
NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas.NOEY2（ARHI），一种在卵巢癌和乳腺癌中印记的假定肿瘤抑制基因。
Proc Natl Acad Sci U S A. 1999 Jan 5;96(1):214-9. doi: 10.1073/pnas.96.1.214.
3
A model system to study genomic imprinting of human genes.一种用于研究人类基因基因组印记的模型系统。
Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14857-62. doi: 10.1073/pnas.95.25.14857.
4
Regional loss of imprinting of the insulin-like growth factor II gene occurs in human prostate tissues.胰岛素样生长因子II基因的区域印记丢失发生在人类前列腺组织中。
Clin Cancer Res. 1995 Dec;1(12):1471-8.
5
A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in mice.一个位于p57KIP2和IPL之间的新基因ITM，在小鼠中是印记基因。
DNA Res. 1998 Aug 31;5(4):235-40. doi: 10.1093/dnares/5.4.235.
6
Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1.内源性小鼠基因Kvlqt1印记的应变依赖性发育松弛
Genomics. 1998 Nov 1;53(3):395-9. doi: 10.1006/geno.1998.5511.
7
Loss of imprinting and allele switching of p73 in renal cell carcinoma.
Oncogene. 1998 Oct 1;17(13):1739-41. doi: 10.1038/sj.onc.1202099.
8
Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.胶质瘤中微卫星不稳定性与DNA错配修复基因的突变
Am J Pathol. 1998 Oct;153(4):1181-8. doi: 10.1016/S0002-9440(10)65662-3.
9
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest.与印记基因Mest缺失相关的异常母性行为和生长发育迟缓。
Nat Genet. 1998 Oct;20(2):163-9. doi: 10.1038/2464.
10
Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5.TSSC5的体细胞突变，TSSC5是位于人类染色体11p15.5的一个新的印记基因。
Cancer Res. 1998 Sep 15;58(18):4155-9.
Zotero 插件