: Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. Here, we analyzed exonic mutations and intronic mutations described in the COL4A1 gene using bioinformatics programs and identified candidate mutations that may alter the normal splicing pattern through a minigene system. We identified seven variants that induce splicing alterations by disrupting normal splice sites, creating new ones, or altering splice regulatory elements. These mutations are predicted to impact protein function. Our results help in the correct molecular characterization of variants in COL4A1 and may help develop more personalized treatment options.

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay / Wang, Zhi; Sun, Yan; Zhang, Yiyin; Zhang, Yan; Zhang, Ran; Li, Changying; Liu, Xuyan; Pan, Fengjiao; Qiao, Dan; Shi, Xiaomeng; Zhang, Bingying; Xu, Ning; Bottillo, Irene; Shao, Leping. - In: CLINICAL GENETICS. - ISSN 1399-0004. - (2024). [10.1111/cge.14546]

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay

Sun, Yan;Zhang, Yan;Bottillo, Irene
Penultimo
;
2024

Abstract

: Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. Here, we analyzed exonic mutations and intronic mutations described in the COL4A1 gene using bioinformatics programs and identified candidate mutations that may alter the normal splicing pattern through a minigene system. We identified seven variants that induce splicing alterations by disrupting normal splice sites, creating new ones, or altering splice regulatory elements. These mutations are predicted to impact protein function. Our results help in the correct molecular characterization of variants in COL4A1 and may help develop more personalized treatment options.
2024
COL4A1 gene; exonic variant; intronic variant; minigene; pre‐mRNA splicing
01 Pubblicazione su rivista::01a Articolo in rivista
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay / Wang, Zhi; Sun, Yan; Zhang, Yiyin; Zhang, Yan; Zhang, Ran; Li, Changying; Liu, Xuyan; Pan, Fengjiao; Qiao, Dan; Shi, Xiaomeng; Zhang, Bingying; Xu, Ning; Bottillo, Irene; Shao, Leping. - In: CLINICAL GENETICS. - ISSN 1399-0004. - (2024). [10.1111/cge.14546]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1710220
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