Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Schwarzbraun, Thomas; Vincent, John B.; Schumacher, Axel; Geschwind, Daniel H.; Oliveira, João Ricardo Mendes de; Windpassinger, Christian; Ofner, Lisa; Ledinegg, M.; Kroisel, Peter M.; Wagner, Klaus; Petek, Erwin

doi:10.1016/j.ygeno.2004.04.013

Cited by 25 publications

(23 citation statements)

References 26 publications

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“…Furthermore, the mRNA level of the GARNL1 gene was specifically associated with total egg number at 500 d of age or egg rate after the first egg [52]. The cerebellum was found to have the highest expression level of human GARNL1 gene among the brain tissues, corresponding to its influence on 14q13-linked neurological phenotypes [56]. In zebrafish, GARNL1 was a strong candidate gene for brain developmental delay [57].…”

Section: Discussionmentioning

confidence: 99%

The GTPase Activating Rap/RanGAP Domain-Like 1 Gene Is Associated with Chicken Reproductive Traits

et al. 2012

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BackgroundAbundant evidence indicates that chicken reproduction is strictly regulated by the hypothalamic-pituitary-gonad (HPG) axis, and the genes included in the HPG axis have been studied extensively. However, the question remains as to whether any other genes outside of the HPG system are involved in regulating chicken reproduction. The present study was aimed to identify, on a genome-wide level, novel genes associated with chicken reproductive traits.Methodology/Principal FindingSuppressive subtractive hybridization (SSH), genome-wide association study (GWAS), and gene-centric GWAS were used to identify novel genes underlying chicken reproduction. Single marker-trait association analysis with a large population and allelic frequency spectrum analysis were used to confirm the effects of candidate genes. Using two full-sib Ningdu Sanhuang (NDH) chickens, GARNL1 was identified as a candidate gene involved in chicken broodiness by SSH analysis. Its expression levels in the hypothalamus and pituitary were significantly higher in brooding chickens than in non-brooding chickens. GWAS analysis with a NDH two tail sample showed that 2802 SNPs were significantly associated with egg number at 300 d of age (EN300). Among the 2802 SNPs, 2 SNPs composed a block overlapping the GARNL1 gene. The gene-centric GWAS analysis with another two tail sample of NDH showed that GARNL1 was strongly associated with EN300 and age at first egg (AFE). Single marker-trait association analysis in 1301 female NDH chickens confirmed that variation in this gene was related to EN300 and AFE. The allelic frequency spectrum of the SNP rs15700989 among 5 different populations supported the above associations. Western blotting, RT-PCR, and qPCR were used to analyze alternative splicing of the GARNL1 gene. RT-PCR detected 5 transcripts and revealed that the transcript, which has a 141 bp insertion, was expressed in a tissue-specific manner.Conclusions/SignificanceOur findings demonstrate that the GARNL1 gene contributes to chicken reproductive traits.

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Section: Discussionmentioning

confidence: 99%

The GTPase Activating Rap/RanGAP Domain-Like 1 Gene Is Associated with Chicken Reproductive Traits

et al. 2012

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“…The deletions of these patients include GARNL1 . It has been suggested21 26 that haploinsufficiency of GARNL1/TULIP1 might be the cause of developmental delay and epilepsy. Indeed, heterozygous mutations were found in 4/140 of such patients, although these mutations were all inherited from healthy parents.…”

Section: Discussionmentioning

confidence: 99%

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

et al. 2012

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“…RalGAPα1 (GARNL1/TULIP1) and RalGAPα2 (AS250; Akt substrate of 250 kDa) were identified previously as proteins with sequence identity with the GAP catalytic domain of TSC2 (also known as tuberin) [28, 29] (Fig. 2B) and distinct from the RasGAP catalytic domain [17].…”

Section: Ral Proteinsmentioning

confidence: 99%

Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame

Gentry

Martin

Reiner

et al. 2014

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

112

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Since their discovery in 1986, Ral (Ras-like) GTPases have emerged as critical regulators of diverse cellular functions. Ral-selective guanine nucleotide exchange factors (RalGEFs) function as downstream effectors of the Ras oncoprotein, and the RalGEF-Ral signaling network comprises the third best characterized effector of Ras-dependent human oncogenesis. Because of this, Ral GTPases as well as their effectors are being explored as possible therapeutic targets in the treatment of RAS mutant cancer. The two Ral isoforms, RalA and RalB, interact with a variety of downstream effectors and have been found to play key and distinct roles in both normal and neoplastic cell physiology including regulation of vesicular trafficking, migration and invasion, tumor formation, metastasis, and gene expression. In this review we provide an overview of Ral biochemistry and biology, and we highlight recent discoveries.

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Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Cited by 25 publications

References 26 publications

The GTPase Activating Rap/RanGAP Domain-Like 1 Gene Is Associated with Chicken Reproductive Traits

The GTPase Activating Rap/RanGAP Domain-Like 1 Gene Is Associated with Chicken Reproductive Traits

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame

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