Temporal and spatial expression of zebrafish mctp genes and evaluation of frameshift alleles of mctp2b

Espino-Saldaña, Ángeles Edith; Durán-Ríos, Karina; Olivares-Hernandez, Eduardo; Rodríguez-Ortiz, Roberto; Arellano‐Carbajal, Fausto; Martı́nez-Torres, Ataúlfo

doi:10.1016/j.gene.2020.144371

Cited by 9 publications

(6 citation statements)

References 20 publications

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“…MCTP2 (Multiple C2 Domain Containing Transmembrane Protein 2) is a calcium-binding protein associated with the ER, where it may participate in lipid biogenesis yet little is known about its function. [ 45 ] A previous report identified an inherited deletion on chromosome 15q26.2 that encompasses MCTP2 in two half siblings with COA, and a de novo intragenic truncating duplication in MCTP2 in a patient with HLHS and COA. [ 25 ] That study also found that knockdown of Mctp2 in Xenopus embryos resulted in a lack of endocardial cushion formation, indicating an essential role for MCTP2 in heart development.…”

Section: Resultsmentioning

confidence: 99%

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

et al. 2022

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Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the difficulty of accurately phenotyping newborns contribute to this problem. We hypothesized that performing exome sequencing on selected individuals in families with multiple members affected by left-sided CHD, then filtering variants by population frequency, in silico predictive algorithms, and phenotypic annotations from publicly available databases would increase this yield and generate a list of candidate disease-causing variants that would show a high validation rate. In eight of the nineteen families in our study (42%), we established a well-known gene/phenotype link for a candidate variant or performed confirmation of a candidate variant’s effect on protein function, including variants in genes not previously described or firmly established as disease genes in the body of CHD literature: BMP10, CASZ1, ROCK1 and SMYD1. Two plausible variants in different genes were found to segregate in the same family in two instances suggesting oligogenic inheritance. These results highlight the need for functional validation and demonstrate that in the era of next-generation sequencing, multiplex families with isolated CHD can still bring high yield to the discovery of novel disease genes.

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Section: Resultsmentioning

confidence: 99%

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

et al. 2022

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“…MCTPs, were firstly discovered in Caenorhabditis elegans, were mainly composed of three or four C2 domains and one to four transmembrane domains [ 12 ]. MCTPs had a conservative Ca 2+ binding element, GXSD, they could bind to Ca 2+ and act as a novel ER calcium sensor [ 31 , 32 ]. In Drosophila melanogaster , two MCTPs acting as ER localization calcium sensors and calcium-dependent feedback sources, participated in baseline neuronal release and highlight homeostasis plasticity [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…In Drosophila melanogaster , two MCTPs acting as ER localization calcium sensors and calcium-dependent feedback sources, participated in baseline neuronal release and highlight homeostasis plasticity [ 13 ]. Four MCTPs in zebrafish were mainly localized to the ER, and knocking down MCTP2b expression impaired embryonic development [ 31 ]. In plants, MCTP genes regulated flowering, growth and development through intercellular transport processes [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Characterization and phylogenetic analysis of multiple C2 domain and transmembrane region proteins in maize

et al. 2022

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Background Multiple C2 domain and transmembrane region proteins (MCTPs) are evolutionarily conserved and important signaling molecules. However, the MCTP gene family has not been comprehensively analyzed in maize. Results In this study, 385 MCTP genes were identified in all surveyed 38 species. Moreover, gene duplication mode exploration showed that whole genome duplication (WGD) mainly contributed to the expansion of MCTP genes in angiosperms. Phylogeny reconstruction with all surveyed species by the maximum-likelihood (ML) method showed five clades of MCTPs, Clades I to V. Each clade of MCTPs had conservative structures and motifs. Focusing on maize, 17 MCTPs were identified, and a neighborjoining (NJ) phylogenetic tree with only ZmMCTPs was also constructed. As expected, 17 MCTPs showed similar phylogenetic relationships in the neighbor-joining (NJ) tree with those in the maximum-likelihood (ML) tree and could also be divided into five subclades. Moreover, ZmMCTP members in different clades showed specific gene structure, conserved motif, and domain structure compositions. Intriguingly, most ZmMCTP genes were intronless. Analyses of isoelectric points (pIs) and grand averages of hydropathicity (GRAVYs) indicated that the N-terminus was more dispersive than the C-terminus. Further tissue-specific expression analysis indicated that duplicated ZmMCTP pairs involved in whole genome duplication (WGD) had similar expression trends. Finally, ZmMCTPs were transcriptionally altered under diverse abiotic stresses and hormone treatments. Conclusions Our results contribute to deciphering the evolutionary history of MCTPs in maize and other plants, facilitating further functional analysis of these factors, and provide a basis for further clarification of the molecular mechanism of stress responses.

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“…The four zebrafish MCTP genes are expressed mainly in the nervous and muscular systems. Knocking down MCTP2b impaired embryonic development 146 .…”

Section: Discussionmentioning

confidence: 99%

Human Genetics of Face Recognition: Discovery ofMCTP2Mutations in Humans with Face Blindness (Congenital Prosopagnosia)

Sun

Wan

et al. 2021

Preprint

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Face recognition is important for both visual and social cognition. While congenital prosopagnosia (CP) or face blindness has been known for seven decades and electrophysiological studies have characterized face specific neurons for half a century, no molecular analyses have been undertaken. Here we report results after 14 years of research combining classic genetics and modern genomics involving over 7000 subjects. From a large family with 18 CP members, we uncovered a fully co-segregating private mutation in the MCTP2 gene which encodes a calcium binding transmembrane protein expressed in the central nervous system. More rare mutations in MCTP2 were detected in CP families screened from a cohort of 2904 college students and were also associated with CPs in a second cohort of 1928. In a third cohort of 1757, face recognition was different between 14 carriers with a frameshift mutation S80fs in MCTP2 and 19 non-carrying volunteers. 6 families including one with 10 members showed the S80fs-CP correlation. Functional magnetic resonance imaging (fMRI) indicates that impaired recognition of individual faces by CPs with the MCTP2 mutations is associated with inability to recognize the same faces in the right fusiform face area (rFFA). Our results have revealed the genetic predisposition of MCTP2 mutations in CP, 74 years after the initial report of CP. This is the first time a gene required for a higher form of visual social cognition was found in humans.

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Temporal and spatial expression of zebrafish mctp genes and evaluation of frameshift alleles of mctp2b

Cited by 9 publications

References 20 publications

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

Characterization and phylogenetic analysis of multiple C2 domain and transmembrane region proteins in maize

Human Genetics of Face Recognition: Discovery ofMCTP2Mutations in Humans with Face Blindness (Congenital Prosopagnosia)

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