This report describes Bloom syndrome; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is BLM, which encodes Bloom Syndrome, RecQ Helicase-Like (also called RECQL3). There is one high-scoring fly ortholog, Blm, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human gene has not been introduced into flies.
Females homozygous for a null allele of Dmel\Blm are sterile due to maternal-effect embryonic lethality; males exhibit reduced fertility. Homozygotes are hypersensitive to chemical mutagens and radiation; in sperm, chromosome nondisjunction and chromosome loss are increased more than tenfold. Genetic and physical interactions have been described for Dmel\Blm; see below and in the Blm gene report.
[updated Apr. 2017 by FlyBase; FBrf0222196]