Intron Retention: A Common Splicing Event within the Human Kallikrein Gene Family

Michael, Iacovos P.; Kurlender, Lisa; Memari, Nader; Yousef, George M.; Du, D.; Grass, Linda; Stephan, Carsten; Jung, Klaus; Diamandis, Eleftherios P.

doi:10.1373/clinchem.2004.042341

Cited by 59 publications

(45 citation statements)

References 51 publications

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“…Splicing requires both a recognition site and regulatory sequences such as exonic splicing silencers (ESSs) and enhancers (ESEs) that regulate accurate splicing of the pre-mRNA into messenger RNA (mRNA). The KLK1 gene has two alternative transcripts due to the retention of its third intron [16]. These include a classical short variant and the long isoform in which intron 3 is retained.…”

Section: Discussionmentioning

confidence: 99%

A single nucleotide polymorphism in exon 3 of the kallikrein 1 gene is associated with large but not small abdominal aortic aneurysm

et al. 2011

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Objective: Abdominal aortic aneurysm (AAA) is a late onset degenerative condition with an inherited component thought to be due to multiple risk alleles. A locus on chromosomes 19q13 has been previously associated with AAA. The gene encoding kallikrein 1 (KLK1) is located on chromosome 19q13 and the single nucleotide polymorphism (SNP) rs5516 has been previously shown to lead to structural changes in the KLK1 transcription regulatory region. The aim of this study was to investigate whether rs5516 was associated with AAA and aortic diameter. Methods:We performed a case-control study on two independent subject groups from Western Australia (n=1304) and Queensland (n=325) of which 609 and 225 had an AAA, respectively. In addition we analysed RNA extracted from abdominal aortic biopsies from 12 patients undergoing AAA surgery and 6 organ donors.Results: After adjusting for other risk factors the G allele of the rs5516 polymorphism was associated with large but not small AAA using a dominant model in the Western Australian men and a recessive model in Queensland subjects. In subjects with large AAA the G allele was associated with aortic diameter. The short splice variant of KLK1 was upregulated within AAA compared to control biopsies. Conclusion:This study suggests that a genetic polymorphism in KLK1 may contribute to the risk of developing later stage AAA.

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Section: Discussionmentioning

confidence: 99%

A single nucleotide polymorphism in exon 3 of the kallikrein 1 gene is associated with large but not small abdominal aortic aneurysm

et al. 2011

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“…Альтерна-тивный сплайсинг, использование альтернативных промоторов и альтер-нативных сайтов полиаденилирования транскриптов позволяет увеличить сложность протеома при том же числе генов, и в результате одному гену может соответствовать до нескольких тысяч разных белков (Graveley, 2001;Maniatis, Tasic, 2002;Stamm et al, 2005). Оценка транс-криптома человека различными методами показала, что транскрипты около 90 % генов претерпевают альтерна-тивный сплайсинг (Dehay, Kennedy, 2009;Mollet et al, 2010), а нарушение сплайсинга часто становится причи-ной заболевания (Blencowe, 2000;Black, 2003;Faustino, Cooper, 2003;Michael et al, 2005).…”

Section: сохранение интрона в транскрипте -один из вариантов альтер-нunclassified

“…Среди альтернативных транскриптов особое мес-то занимают те, которые сохраняют интрон (Kan et al, 2002;Matlin et al, 2005;Michael et al, 2005;Galante et al, 2004). Около 40 % генов человека имеют инт-рон-содержащие транскрипты (Mollet et al, 2010).…”

Section: сохранение интрона в транскрипте -один из вариантов альтер-нunclassified

“…Около 40 % генов человека имеют инт-рон-содержащие транскрипты (Mollet et al, 2010). Если количество транскриптов, сохранивших интрон, значи-тельное, и появление таких транскриптов специфично, т. е. зависит от типа клеток или стимулируется каки-ми-то воздействиями, можно предположить функцио-нальную значимость транскриптов с интроном (Galante et al, 2004;Michael et al, 2005). Появление транскрип-тов, содержащих интрон, наблюдается при различных заболеваниях человека, в том числе раковых, являясь своеобразным биоиндикатором болезни (Michael et al, 2005).…”

Section: сохранение интрона в транскрипте -один из вариантов альтер-нunclassified

“…Если количество транскриптов, сохранивших интрон, значи-тельное, и появление таких транскриптов специфично, т. е. зависит от типа клеток или стимулируется каки-ми-то воздействиями, можно предположить функцио-нальную значимость транскриптов с интроном (Galante et al, 2004;Michael et al, 2005). Появление транскрип-тов, содержащих интрон, наблюдается при различных заболеваниях человека, в том числе раковых, являясь своеобразным биоиндикатором болезни (Michael et al, 2005). Известны примеры функциональной значимости особых белков, соответствующих интрон-содержащим транскриптам (Forrest et al, 2004;Michael et al, 2005).…”

Section: сохранение интрона в транскрипте -один из вариантов альтер-нunclassified

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The intron-containing transcript: an evolutionarily conserved characteristic of genes orthologous to nxf1 (Nuclear eXport Factor 1)

Мамон

Kliver

Prosovskaya

et al. 2013

Ecological genetics

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Background. The function of nxf1 (Nuclear eXport Factor 1) gene is the nuclear-cytoplasmic transport of most mRNAs. A characteristic feature of nxf1 genes in animals belonging to different taxonomic groups is the existence of an alternative transcript with a homologous intron called a cassette intron. Materials and methods. The following databases were used: Genbank (http://www.ncbi.nlm.nih.gov/); Flybase (http://flybase.org/); UCSC Genome (http://genome.ucsc.edu). To build the secondary structures of nucleotide sequences we used the UNAFold v3.8 suite (http://mfold.rna.albany.edu/). Results. The existence of evolutionarily conserved sequences of intron 10–11 in nxf1 genes in vertebrates, and the presence of two poly(A) sequences of intron 5–6 in nxf1 genes of Drosophilidae, may be adaptive. The nxf1 cassette introns form characteristic secondary structures. Conclusion. The paper discusses the possible functional significance of the intron-retaining transcripts of nxf1 genes.

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Intron retention in viruses and cellular genes: Detention, border controls and passports

Rekosh

Hammarskjöld

2018

WIREs RNA

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Intron retention (IR), where one or more introns remain in the RNA after splicing, was long thought to be rare in mammalian cells, albeit common in plants and some viruses. Largely due to the development of better methods for RNA analysis, it has now been recognized that IR is much more common than previously thought and that this mechanism is likely to play an important role in mammalian gene regulation. To date, most publications and reviews about IR have described the resulting mRNAs as "dead end" products, with no direct consequence for the proteome. However, there are also many reports of mRNAs with retained introns giving rise to alternative protein isoforms. Although this was originally revealed in viral systems, there are now numerous examples of bona fide cellular proteins that are translated from mRNAs with retained introns. These new isoforms have sometimes been shown to have important regulatory functions. In this review, we highlight recent developments in this area and the research on viruses that led the way to the realization of the many ways in which mRNAs with retained introns can be regulated. This article is categorized under: RNA Processing > Splicing Mechanisms RNA Processing > Splicing Regulation/Alternative Splicing RNA Export and Localization > Nuclear Export/Import RNA Interactions with Proteins and Other Molecules > RNA-Protein Complexes.

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Intron Retention: A Common Splicing Event within the Human Kallikrein Gene Family

Cited by 59 publications

References 51 publications

A single nucleotide polymorphism in exon 3 of the kallikrein 1 gene is associated with large but not small abdominal aortic aneurysm

A single nucleotide polymorphism in exon 3 of the kallikrein 1 gene is associated with large but not small abdominal aortic aneurysm

The intron-containing transcript: an evolutionarily conserved characteristic of genes orthologous to nxf1 (Nuclear eXport Factor 1)

Intron retention in viruses and cellular genes: Detention, border controls and passports

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