Characterization ofSCML1,a New Gene in Xp22, with Homology to Developmental Polycomb Genes

Vosse, Esther van de; Walpole, Susannah M.; Nicolaou, Alexia; Bent, Paola van der; Cahn, Anthony; Vaudin, Mark D.; Ross, Mark T.; Durham, Jillian; Pavitt, R.; Wilkinson, Jane; Grafham, Darren; Bergen, Arthur A. B.; Ommen, G.J.B. van; Yates, John R.; Dunnen, Johan T. den; Trump, Dorothy

doi:10.1006/geno.1998.5224

Cited by 35 publications

(22 citation statements)

References 32 publications

(9 reference statements)

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“…The region has been characterized by construction of several physical maps including yeast artificial chromosome (YAC) contigs, P1-derived artificial chromosome contigs, and restriction maps (Alitalo et al, 1995;Ferrero et al, 1995;van de Vosse et al, 1996;Walpole et al, 1997). To date, the physical mapping data have assisted in the identification of four genes in the 1.3-Mb Xp22 region (Walpole et al, 1997): PPEF (protein phosphatase with EF hand motifs) (Montini et al, 1997); XLRS1, the RS gene (Sauer et al, 1997), SCML1 (sex comb on midleg like-1) (van de Vosse et al, 1998); and STK9 (serine-threonine kinase-9) (Montini et al, 1998). Here we report the identification and characterization of another gene on Xp22, the human homologue of a mouse retinoic acidinduced gene, designated RAI2.…”

Section: Introductionmentioning

confidence: 98%

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

et al. 1999

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Section: Introductionmentioning

confidence: 98%

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

et al. 1999

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“…Our analysis also identified molecules whose functions during CNS development are not yet understood. Specifically, for ~30% of our NDB set, we identified, via PubMed [56] searches, ≤ 3 articles associated with a particular gene as related to CNS development or neural differentiation. For example, it is possible that transcriptional regulators, SCML1 [57] and ZFHX4 [58] may be involved in these processes based on their expression in the developing mammalian brain and suspected roles in other biological processes.…”

Section: Discussionmentioning

confidence: 99%

A genomics-based framework for identifying biomarkers of human neurodevelopmental toxicity

Robinson

Gormley

Fisher

2017

Reproductive Toxicology

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Human embryonic stem cell (hESC) neural differentiation models have tremendous potential for evaluating environmental compounds in terms of their ability to induce neurodevelopmental toxicity. Genomic based-approaches are being applied to identify changes underlying normal human development (in vitro and in vivo) and the effects of environmental exposures. Here, we investigated whether mechanisms that are shared between hESC neural differentiation model systems and human embryos are candidate biomarkers of developmental toxicities for neurogenesis. We conducted a meta-analysis of transcriptomic datasets with the goal of identifying differentially expressed genes that were common to the hESC-model and human embryos. The overlapping NeuroDevelopmental Biomarker (NDB) gene set contained 304 genes which were enriched for their roles in neurogenesis. These genes were investigated for their utility as candidate biomarkers in the context of toxicogenomic studies focused on the effects of retinoic acid, valproic acid, or carbamazepine in hESC models of neurodifferentiation. The results revealed genes, including 13 common targets of the 3 compounds, that were candidate biomarkers of neurotoxicity in hESC-based studies of environmental toxicants.

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“…For example, SCML1 is a repressor of expression of Hox genes in mammal and play an important role in the control of embryonal development [67] . This gene showed a pattern of repeated selective sweeps driving divergence between species while eliminating variation within species, and a candidate gene for explaining developmental differences between humans and chimpanzees [20] .…”

Section: Analysis Of Positive Selection In 34 Candidate Genesmentioning

confidence: 99%

Detecting positive darwinian selection in brain-expressed genes during human evolution

Yang

Zheng

et al. 2007

CHINESE SCI BULL

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To understand the genetic basis that underlies the phenotypic divergence between human and nonhuman primates, we screened a total of 7176 protein-coding genes expressed in the human brain and compared them with the chimpanzee orthologs to identify genes that show evidence of rapid evolution in the human lineage. Our results showed that the nonsynonymous/synonymous substitution (K a /K s ) ratio for genes expressed in the brain of human and chimpanzee is 0.3854, suggesting that the brain-expressed genes are under functional constraint. The X-linked human brain-expressed genes evolved more rapidly than autosomal ones. We further dissected the molecular evolutionary patterns of 34 candidate genes by sequencing representative primate species to identify lineage-specific adaptive evolution. Fifteen out of the 34 candidate genes showed evidence of positive Darwinian selection in human and/or chimpanzee lineages. These genes are predicted to play diverse functional roles in embryonic development, spermatogenesis and male fertility, signal transduction, sensory nociception, and neural function. This study together with others demonstrated the usefulness and power of phylogenetic comparison of multiple closely related species in detecting lineage-specific adaptive evolution, and the identification of the positively selected brain-expressed genes may add new knowledge to the understanding of molecular mechanism of human origin. positive selection, adaptive evolution, brain-expressed gene, hominoidsIn spite of only ~1.23% difference in genomic DNA sequence [1] , human and our closest living relative, chimpanzee, differ considerably in many biological characteristics, especially the enlarged brain and superior cognitive ability in humans [2] . This observation leads to a long-lasting question of what makes human unique.The recent study has shown that the genes involved in diverse functions of nervous system exhibit significantly

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Characterization ofSCML1,a New Gene in Xp22, with Homology to Developmental Polycomb Genes

Cited by 35 publications

References 32 publications

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

A genomics-based framework for identifying biomarkers of human neurodevelopmental toxicity

Detecting positive darwinian selection in brain-expressed genes during human evolution

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