Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development

• DOI: 10.1073/pnas.1619523114
• Publication Date: 2017-04-25T00:55:25Z
• Authors: Meade Haller; Qianxing Mo; Akira Imamoto; Dolores J. Lamb
• Keywords: Male; Mice, Knockout; 0301 basic medicine; Chromosomes, Human, Pair 22; Gene Expression Regulation, Developmental; Nuclear Proteins; Mice; 03 medical and health sciences; Animals; Humans; Female; Genitalia; Urinary Tract; Adaptor Proteins, Signal Transducing

Significance Common deletions affecting multiple genes that cause birth defects can be studied by investigating each gene’s independent role in embryonic development. This study shows a specific gene, CRKL, which lies within the commonly deleted region at chromosome locus 22q11.2, is required for normal overall growth, and development of kidneys testes. Deletion only Crkl gene mice sufficient to increased incidence seen humans who possess deletion 22q11.2. CRKL one key whose contributes urogenital associated with multiple-gene indicating new target therapy affected patients.