ABSTRACT
The development of dominant follicles requires the parallel growth of a vascular network, regulated by VEGF and its receptors VEGFR-1 and VEGFR-2. Here, we demonstrate the presence of mRNA for the soluble forms of VEGFR-1 and VEGFR-2 by RT-PCR and the respective proteins by Western blot, in bovine dominant follicles. The 3' end of the mRNA coding region and the deduced C-terminal amino acid sequence of the bovine VEGFR soluble forms were similar to those previously described in human and mice. The relative abundance of sVEGFR-1 was higher in dominant follicles of day 4, decreasing on day 6 and further on day 9 of the cycle. In contrast, sVEGFR-2 expression was low on day 4 follicles and increased as the cycle advanced, becoming greater on day 9. The changes of sVEGFR-1 and sVEGFR-2 with the age of the bovine dominant follicle indicate a physiological role in its growth and atresia.
Subject(s)
Gene Expression Regulation/physiology , Ovarian Follicle/metabolism , Vascular Endothelial Growth Factor Receptor-1/metabolism , Vascular Endothelial Growth Factor Receptor-2/metabolism , Amino Acid Sequence , Animals , Base Sequence , Cattle , Estrous Cycle/physiology , Female , Molecular Sequence Annotation , RNA, Messenger/genetics , RNA, Messenger/metabolism , Vascular Endothelial Growth Factor Receptor-1/genetics , Vascular Endothelial Growth Factor Receptor-2/geneticsABSTRACT
We describe a 5-generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17-year-old female, and her affected male relatives shared many of the cognate manifestations--mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)--as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.
Subject(s)
Intellectual Disability/genetics , Thumb/abnormalities , X Chromosome , Adolescent , Aphasia/genetics , Child , DNA/genetics , Female , Gait , Genetic Linkage , Humans , Infant , Male , Pedigree , SyndromeABSTRACT
Two rare cases of 6p partial deletion (6p23----pter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also reviewed.
