We performed a cytogenetic study on 140 nonpolymalformed patients with mental retardation of clinically undefined origin, using a high resolution banding technique, to determine how much chromosome abnormalities contribute to the etiology of this condition. A total of 15 patients (10.7%) were found to have autosomal or sex chromosomal abnormalities. Autosomal abnormalities included partial mono...

The protein content and its type are principal factors affecting wheat (Triticum aestivum) end product quality. Among the wheat proteins, glutenin proteins, especially, high molecular weight glutenin subunits (HMW-GS) are major determinants of processing quality. Wheat and its primary gene pool have limited variation in terms of HMW-GS alleles. Wild relatives of wheat are an important source of...

SMC complexes are widely conserved ATP-powered DNA-loop-extrusion motors indispensable for organizing and faithfully segregating chromosomes. How translocate along DNA loop extrusion what happens when two meet on the same molecule is largely unknown. Revealing origins consequences of encounters crucial understanding folding process not only bacterial, but also eukaryotic Here, we uncover severa...

Chronic myelogenous leukemia (CML) is characterized by the Philadelphia (Ph) chromosome, created by a reciprocal translocation t(9:22)(q34;q11) which forms the chimeric gene, BCR-ABL. Variant Ph chromosome translocations involving chromosomes other than 9 and 22 have been identified in 5-10% of CML cases. Four-way Ph chromosome translocations are an extremely rare event in myeloid malignancies ...

A new member of the proprotein convertase gene family (LPC) has been identified at a chromosome translocation breakpoint occurring in a high grade lymphoma. The translocation t(11;14)(q23;q32) has been molecularly cloned and shown to be the result of a fusion between an intron in the 3' -untranslated region of LPC with a sequence close to the switch region S gamma 4 of the IGH locus. The LPC ge...

The T-cell receptor (TCR) alpha/delta chain locus on chromosome 14q11 is nonrandomly involved in translocations and inversions in human T-cell neoplasms. We have analyzed three acute T-lymphoblastic leukemia samples carrying a t(10;14)(q24;q11) chromosome translocation by means of somatic cell hybrids and molecular cloning. In all cases studied the translocation splits the TCR delta chain locus...

Chromosome banding studies on 60 children with acute lymphocytic leukemia (ALL), including "null," pre-B, B, and T cell phenotypes, were performed. In 4 of 17 patients with pre-B cell ALL, we noted a previously undescribed chromosome translocation, t(1;19)(q23;q13). This translocation was not found in patients with "null" cell, B cell, or T cell ALL. Since each patient with the 1;19 translocati...

The glutamate oxaloacetate transaminase (GOT) zymogram phenotypes of a series of 15 translocation lines, a chromosome addition line and a chromosome substitution line were determined. In each of the translocation lines a segment of the long arm of Triticum aestivum chromosome 3D has been replaced by a portion of an Agropyron elongatum homoeologue. Evidence was obtained that the products of the ...

We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in...