About: shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination

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About: shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination
Creator	Barroca, Vilma Jain, Devanshi Keeney, Scott Lailler, Nathalie Livera, Gabriel Martini, Emmanuelle Petrillo, Cynthia Ribeiro, Jonathan
Source	BioRxiv
abstract	Recombination is crucial for chromosome pairing and segregation during meiosis. SPATA22, along with its direct binding partner and functional collaborator, MEIOB, is essential for the proper repair of double-strand breaks (DSBs) during meiotic recombination. Here we describe a novel point-mutated allele (shani) of mouse Spata22 that we isolated in a forward genetic screen. shani mutant mice phenocopy Spata22-null and Meiob-null mice: mutant cells appear to form DSBs and initiate meiotic recombination, but are unable to complete DSB repair, leading to meiotic prophase arrest, apoptosis and sterility. shani mutants show precocious loss of DMC1 foci and improper accumulation of BLM-positive recombination foci, reinforcing the requirement of SPATA22-MEIOB for the proper progression of meiotic recombination events. The shani mutation lies within a Spata22 coding exon and molecular characterization shows that it leads to incorrect splicing of the Spata22 mRNA, ultimately resulting in no detectable SPATA22 protein. We propose that the shani mutation alters an exonic splicing enhancer element (ESE) within the Spata22 transcript. The affected DNA nucleotide is conserved in most tetrapods examined, suggesting that the splicing regulation we describe here may be a conserved feature of Spata22 regulation.
has issue date	2020-02-05(xsd:dateTime)
bibo:doi	10.1101/2020.02.04.934042
has license	biorxiv
sha1sum (hex)	276c16dd4bc0d50bbeb0bcfc6e6bf68ce1cfa828
schema:url	https://doi.org/10.1101/2020.02.04.934042
resource representing a document's title	shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination
schema:publication	bioRxiv
resource representing a document's body	covid:276c16dd4bc0d50bbeb0bcfc6e6bf68ce1cfa828#body_text
is schema:about of	named entity 'conserved' named entity 'element' named entity 'describe' named entity 'meiotic recombination' named entity 'INITIATE' named entity 'PRECOCIOUS' named entity 'HERE' named entity 'MEIOB' named entity 'INCORRECT' named entity 'MUTANT' named entity 'UNABLE TO COMPLETE' named entity 'BLM' named entity 'ISOLATED' named entity 'APOPTOSIS' named entity 'MICE' named entity 'SPATA22' named entity 'DMC1' named entity 'CODING EXON' named entity 'BUT' named entity 'DETECTABLE' named entity 'ITS' named entity 'meiosis' named entity 'prophase' named entity 'allele' named entity 'cells' named entity 'Recombination' named entity 'DSB' named entity 'DMC1' named entity 'mutant' named entity 'leads' named entity 'genetic screen' named entity 'shani' named entity 'chromosome pairing' named entity 'null mice' named entity 'BLM' named entity 'mice' named entity 'allele' named entity 'Recombination' named entity 'meiotic prophase' named entity 'mutation' named entity 'exon' named entity 'primers' named entity 'mice' named entity 'Monodelphis domestica' named entity 'antibody' named entity 'littermate' named entity 'Xylene' named entity 'chromosome' named entity 'Triton X-100' named entity 'Qiagen' named entity 'cDNA' named entity 'testes' named entity 'wild type' named entity 'cnidarians' named entity 'amino acids' named entity 'apoptosis' named entity 'Meiotic recombination' named entity 'TUNEL' named entity 'Prophase' named entity 'staining' named entity 'echinoderms' named entity 'RPA' named entity '21.4%' named entity 'nucleotide sequence' named entity 'Wild-type' named entity 'testis' named entity 'wild-type' named entity 'histological' named entity 'DMC1' named entity 'ovaries' named entity 'mutagenized' named entity 'germ cell' named entity 'non-fat' named entity 'Black arrows' named entity 'meiosis' named entity 'histological examination' named entity 'unannotated'

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