A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

Article Abstract:

A study is carried out to identify the common variants that contribute for the genesis of Hirschsprung disease (HSCR), a multifactorial, non-mendelian disorder. The study shows that a common non-coding RET variant within a conserved enhancer-like sequence in intron 1 is significantly associated with HSCR susceptibility and makes a 20-fold greater contribution to risk than alleles do.

Hirschsprung's disease, Rational-emotive psychotherapy, Rational-emotive therapy

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Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

Article Abstract:

The dominant-negative mutations in the human signal transducer and activator of transcription 3 (STAT3) gene have resulted in the classical multisystem hyper-immunoglobulin E syndrome (HIES). The results have highlighted the multiple roles played by STAT3 in humans and have shown the critical involvement of multiple cytokine pathways in the pathogenesis of HIES.

DNA-ligand interactions, DNA binding, Immunoglobulin E

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A hold on plant meiosis

Article Abstract:

The omission of meiotic recombination is promoted by a special mutation called dyad in the plant Arabidopsis. The mutation is found to be extremely effective in turning the plant meiosis on and off according to its requirements.

Genetic aspects, Arabidopsis, Meiosis

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