Eintrag weiter verarbeiten
microRNAs and genetic diseases
Gespeichert in:
| Zeitschriftentitel: | PathoGenetics |
|---|---|
| Personen und Körperschaften: | , , |
| In: | PathoGenetics, 2, 2009, 1 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Springer Science and Business Media LLC
|
| Schlagwörter: |
| author_facet |
Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro |
|---|---|
| author |
Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro |
| spellingShingle |
Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro PathoGenetics microRNAs and genetic diseases Metals and Alloys Mechanical Engineering Mechanics of Materials |
| author_sort |
meola, nicola |
| spelling |
Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro 1755-8417 Springer Science and Business Media LLC Metals and Alloys Mechanical Engineering Mechanics of Materials http://dx.doi.org/10.1186/1755-8417-2-7 <jats:title>Abstract</jats:title> <jats:p>microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.</jats:p> microRNAs and genetic diseases PathoGenetics |
| doi_str_mv |
10.1186/1755-8417-2-7 |
| facet_avail |
Online Free |
| finc_class_facet |
Chemie und Pharmazie Technik |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Ni8xNzU1LTg0MTctMi03 |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Ni8xNzU1LTg0MTctMi03 |
| institution |
DE-Brt1 DE-Zwi2 DE-D161 DE-Gla1 DE-Zi4 DE-15 DE-Pl11 DE-Rs1 DE-105 DE-14 DE-Ch1 DE-L229 DE-D275 DE-Bn3 |
| imprint |
Springer Science and Business Media LLC, 2009 |
| imprint_str_mv |
Springer Science and Business Media LLC, 2009 |
| issn |
1755-8417 |
| issn_str_mv |
1755-8417 |
| language |
English |
| mega_collection |
Springer Science and Business Media LLC (CrossRef) |
| match_str |
meola2009micrornasandgeneticdiseases |
| publishDateSort |
2009 |
| publisher |
Springer Science and Business Media LLC |
| recordtype |
ai |
| record_format |
ai |
| series |
PathoGenetics |
| source_id |
49 |
| title |
microRNAs and genetic diseases |
| title_unstemmed |
microRNAs and genetic diseases |
| title_full |
microRNAs and genetic diseases |
| title_fullStr |
microRNAs and genetic diseases |
| title_full_unstemmed |
microRNAs and genetic diseases |
| title_short |
microRNAs and genetic diseases |
| title_sort |
micrornas and genetic diseases |
| topic |
Metals and Alloys Mechanical Engineering Mechanics of Materials |
| url |
http://dx.doi.org/10.1186/1755-8417-2-7 |
| publishDate |
2009 |
| physical |
|
| description |
<jats:title>Abstract</jats:title>
<jats:p>microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.</jats:p> |
| container_issue |
1 |
| container_start_page |
0 |
| container_title |
PathoGenetics |
| container_volume |
2 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792342431027429381 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T16:34:46.397Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=microRNAs+and+genetic+diseases&rft.date=2009-12-01&genre=article&issn=1755-8417&volume=2&issue=1&jtitle=PathoGenetics&atitle=microRNAs+and+genetic+diseases&aulast=Banfi&aufirst=Sandro&rft_id=info%3Adoi%2F10.1186%2F1755-8417-2-7&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792342431027429381 |
| author | Meola, Nicola, Gennarino, Vincenzo Alessandro, Banfi, Sandro |
| author_facet | Meola, Nicola, Gennarino, Vincenzo Alessandro, Banfi, Sandro, Meola, Nicola, Gennarino, Vincenzo Alessandro, Banfi, Sandro |
| author_sort | meola, nicola |
| container_issue | 1 |
| container_start_page | 0 |
| container_title | PathoGenetics |
| container_volume | 2 |
| description | <jats:title>Abstract</jats:title> <jats:p>microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.</jats:p> |
| doi_str_mv | 10.1186/1755-8417-2-7 |
| facet_avail | Online, Free |
| finc_class_facet | Chemie und Pharmazie, Technik |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Ni8xNzU1LTg0MTctMi03 |
| imprint | Springer Science and Business Media LLC, 2009 |
| imprint_str_mv | Springer Science and Business Media LLC, 2009 |
| institution | DE-Brt1, DE-Zwi2, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3 |
| issn | 1755-8417 |
| issn_str_mv | 1755-8417 |
| language | English |
| last_indexed | 2024-03-01T16:34:46.397Z |
| match_str | meola2009micrornasandgeneticdiseases |
| mega_collection | Springer Science and Business Media LLC (CrossRef) |
| physical | |
| publishDate | 2009 |
| publishDateSort | 2009 |
| publisher | Springer Science and Business Media LLC |
| record_format | ai |
| recordtype | ai |
| series | PathoGenetics |
| source_id | 49 |
| spelling | Meola, Nicola Gennarino, Vincenzo Alessandro Banfi, Sandro 1755-8417 Springer Science and Business Media LLC Metals and Alloys Mechanical Engineering Mechanics of Materials http://dx.doi.org/10.1186/1755-8417-2-7 <jats:title>Abstract</jats:title> <jats:p>microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.</jats:p> microRNAs and genetic diseases PathoGenetics |
| spellingShingle | Meola, Nicola, Gennarino, Vincenzo Alessandro, Banfi, Sandro, PathoGenetics, microRNAs and genetic diseases, Metals and Alloys, Mechanical Engineering, Mechanics of Materials |
| title | microRNAs and genetic diseases |
| title_full | microRNAs and genetic diseases |
| title_fullStr | microRNAs and genetic diseases |
| title_full_unstemmed | microRNAs and genetic diseases |
| title_short | microRNAs and genetic diseases |
| title_sort | micrornas and genetic diseases |
| title_unstemmed | microRNAs and genetic diseases |
| topic | Metals and Alloys, Mechanical Engineering, Mechanics of Materials |
| url | http://dx.doi.org/10.1186/1755-8417-2-7 |