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March 30, 2026G3 Genes Genomes Genetics0 citationsOpen Access

Genetic analyses enabled by the Fourth Chromosome Resource Projectreveal unexpected mutant phenotypes and suggest new disease models

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BWBonnie M. WeasnerMSMichael J StinchfieldBWBrandon P. Weasner

Key Points

  • Explore genetic analyses from the Fourth Chromosome Resource Project to uncover novel phenotypes and disease models.
  • Utilized over 850 genetic stocks for analysis of 79 genes
  • Performed expression studies for transcript and protein
  • Conducted loss of function studies evaluating brain phenotypes
  • Executed overexpression studies with human disease genes
  • Revealed unexpected mutant phenotypes for numerous genes
  • Identified adult brain phenotype linked to signal transducer legless
  • Found first disease models related to cognitive impairment and spinocerebellar ataxia

Abstract

Abstract To date the Fourth Chromosome Resource Project (FCRP) has deposited over 850 stocks for the genetic analysis of its 79 protein coding genes. Here we employ those stocks to reveal unexpected phenotypes for multiple exemplar genes. Expression studies of the transcript and protein provide clues to an adult function for maverick, a gene that despite prior efforts has remained inscrutable. Loss of function studies reveal an adult brain phenotype for the well studied signal transducer legless and the first phenotype for datilographo, a gene with no prior mutations. Marked clones with a new eyeless null allele in the larval brain elicited the first heterochronic phenotype in flies. Mutant clones of myoglianin encompassing the entire adult glial blood brain barrier elicited overgrowth of the underlying optic lobes. Complete clones of one glial layer within the two layer barrier were obtained for multiple genes and provide an opportunity to interrogate barrier crossing mechanisms for neurological therapeutics. In overexpression studies, rough eye phenotypes were generated by two human genes known to cause autosomal dominant neurological diseases. How YY1 and GRM1 haploinsufficiency leads to inherited cognitive impairment and spinocerebellar ataxia visible from birth is currently unknown. Fly eye phenotypes provide a tractable disease model for understanding their mechanism of action. Taken together, the ease with which mutant phenotypes were revealed suggests that a considerable amount of interesting biology remains to be uncovered on the fourth chromosome.

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Cite This Study

Weasner et al. (2026) studied this question.

synapsesocial.com/papers/69c9c553f8fdd13afe0bd484https://doi.org/10.1093/g3journal/jkag077
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